C13Y (p.Cys13Tyr) variant of PSTPIP1 (O43586)
C13Y (p.Cys13Tyr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C13Y (p.Cys13Tyr) variant details
- p.Cys13Tyr
- gnomAD 15-76995428-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 18.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404
- Literature evidence available