E41E (p.Glu41Glu) variant of PSTPIP1 (O43586)
E41E (p.Glu41Glu) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E41E (p.Glu41Glu) variant details
- p.Glu41Glu
- rs766141606
- gnomAD 15-77018234-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 8.96
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.161
- Literature evidence available