E40E (p.Glu40Glu) variant of PSTPIP1 (O43586)
E40E (p.Glu40Glu) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD 15-77018231-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 9.26
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.189
- Literature evidence available