E23D (p.Glu23Asp) variant of PSTPIP1 (O43586)
E23D (p.Glu23Asp) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- gnomAD 15-77018180-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- MetaLR 0.07
- MetaSVM -1.07
- CADD 18.50
- PolyPhen-2 0.32
- SIFT 0.34
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.718
- Literature evidence available