G21R (p.Gly21Arg) variant of PSTPIP1 (O43586)
G21R (p.Gly21Arg) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- gnomAD 15-76994814-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0639
- CADD 2.81
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0471
- Literature evidence available