D38G (p.Asp38Gly) variant of PSTPIP1 (O43586)
D38G (p.Asp38Gly) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D38G (p.Asp38Gly) variant details
- p.Asp38Gly
- gnomAD 15-77018224-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- MetaLR 0.28
- MetaSVM -0.49
- CADD 28.90
- PolyPhen-2 0.99
- 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 -0.061
- Literature evidence available