C36W (p.Cys36Trp) variant of PSTPIP1 (O43586)
C36W (p.Cys36Trp) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C36W (p.Cys36Trp) variant details
- p.Cys36Trp
- gnomAD 15-77018219-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- MetaLR 0.15
- MetaSVM -0.80
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0433
- Literature evidence available