M35V (p.Met35Val) variant of PSTPIP1 (O43586)
M35V (p.Met35Val) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pyogenic arthritis-pyoderma gangrenosum-acne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M35V (p.Met35Val) variant details
- p.Met35Val
- gnomAD rs1390777922
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.70
- PolyPhen-2 0.22
- SIFT 0.03
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.2e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.218