T34A (p.Thr34Ala) variant of CASK (O14936)
T34A (p.Thr34Ala) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T34A (p.Thr34Ala) variant details
- p.Thr34Ala
- ExAC rs763309338
- gnomAD rs763309338
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.489