E23G (p.Glu23Gly) variant of PSTPIP1 (O43586)
E23G (p.Glu23Gly) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- gnomAD 15-76995461-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 5.86
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.718
- Literature evidence available