D38N (p.Asp38Asn) variant of PSTPIP1 (O43586)
D38N (p.Asp38Asn) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- gnomAD 15-77018223-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- MetaLR 0.27
- MetaSVM -0.51
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.061
- Literature evidence available