A109T (p.Ala109Thr) variant of CASK (O14936)
A109T (p.Ala109Thr) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A109T (p.Ala109Thr) variant details
- p.Ala109Thr
- cosmic curated COSV59369
- ExAC rs767887493
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.27
- CADD 22.30
- PolyPhen-2 0.58
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available