Q27K (p.Gln27Lys) variant of PSTPIP1 (O43586)
Q27K (p.Gln27Lys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q27K (p.Gln27Lys) variant details
- p.Gln27Lys
- gnomAD 15-77018190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- MetaLR 0.12
- MetaSVM -1.01
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0981
- Literature evidence available