G21D (p.Gly21Asp) variant of PSTPIP1 (O43586)
G21D (p.Gly21Asp) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- TOPMed rs2076088571
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- MetaLR 0.40
- MetaSVM -0.05
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0471