A18E (p.Ala18Glu) variant of PSTPIP1 (O43586)
A18E (p.Ala18Glu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 15-76995443-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 16.90
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.644
- Literature evidence available