E41K (p.Glu41Lys) variant of PSTPIP1 (O43586)
E41K (p.Glu41Lys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- cosmic curated COSV51206
- gnomAD rs1318668141
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- MetaLR 0.09
- MetaSVM -1.10
- CADD 29.80
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.161