E41G (p.Glu41Gly) variant of PSTPIP1 (O43586)
E41G (p.Glu41Gly) 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.
E41G (p.Glu41Gly) variant details
- p.Glu41Gly
- gnomAD 15-77018233-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- MetaLR 0.10
- MetaSVM -1.07
- CADD 33.00
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.161
- Literature evidence available