A150T (p.Ala150Thr) variant of CASK (O14936)
A150T (p.Ala150Thr) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A150T (p.Ala150Thr) variant details
- p.Ala150Thr
- ExAC rs748166255
- gnomAD rs748166255
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.38
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available