D38E (p.Asp38Glu) variant of PSTPIP1 (O43586)
D38E (p.Asp38Glu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- gnomAD 15-77018225-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- MetaLR 0.07
- MetaSVM -1.02
- CADD 16.10
- PolyPhen-2 0.52
- SIFT 0.07
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.061
- Literature evidence available