Q6K (p.Gln6Lys) variant of PSTPIP1 (O43586)
Q6K (p.Gln6Lys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q6K (p.Gln6Lys) variant details
- p.Gln6Lys
- gnomAD rs1258036988
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- MetaLR 0.08
- MetaSVM -1.05
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.822