E23E (p.Glu23Glu) variant of PSTPIP1 (O43586)
E23E (p.Glu23Glu) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23E (p.Glu23Glu) variant details
- p.Glu23Glu
- gnomAD 15-76995462-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 17.20
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.718
- Literature evidence available