A10V (p.Ala10Val) variant of PSTPIP1 (O43586)
A10V (p.Ala10Val) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs775041579
- ClinGen CA7675646
- ClinVar RCV001037172
- ClinVar RCV004031022
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.10
- MetaSVM -1.00
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome; Inborn ge)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.178
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)