E23Q (p.Glu23Gln) variant of PSTPIP1 (O43586)
E23Q (p.Glu23Gln) in PSTPIP1 (O43586) is a missense 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.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- gnomAD 15-77018178-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- MetaLR 0.29
- MetaSVM -0.48
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.718
- Literature evidence available