C13G (p.Cys13Gly) variant of PSTPIP1 (O43586)
C13G (p.Cys13Gly) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C13G (p.Cys13Gly) variant details
- p.Cys13Gly
- rs376128040
- ClinGen CA7675687
- ClinVar RCV000231124
- ClinVar RCV001514746
- Conflicting interpretations
- not provided; Inborn genetic diseases; Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Autoinflammatory syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0012)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404
- 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)