D31N (p.Asp31Asn) variant of PSTPIP1 (O43586)
D31N (p.Asp31Asn) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- gnomAD 15-77018202-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.60
- PolyPhen-2 0.57
- SIFT 0.01
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0992
- Literature evidence available