E41D (p.Glu41Asp) variant of PSTPIP1 (O43586)
E41D (p.Glu41Asp) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E41D (p.Glu41Asp) variant details
- p.Glu41Asp
- gnomAD 15-77018234-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- MetaLR 0.02
- MetaSVM -1.01
- CADD 14.80
- PolyPhen-2 0.12
- SIFT 0.50
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.161
- Literature evidence available