E23* (p.Glu23Ter) variant of PSTPIP1 (O43586)
E23* (p.Glu23Ter) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- gnomAD 15-76995460-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 10.50
- 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