E40G (p.Glu40Gly) variant of PSTPIP1 (O43586)
E40G (p.Glu40Gly) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- gnomAD 15-77018230-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- MetaLR 0.12
- MetaSVM -0.93
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.189
- Literature evidence available