A18A (p.Ala18Ala) variant of PSTPIP1 (O43586)
A18A (p.Ala18Ala) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 15-76995453-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.644
- Literature evidence available