W203C (p.Trp203Cys) variant of CASK (O14936)
W203C (p.Trp203Cys) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
W203C (p.Trp203Cys) variant details
- p.Trp203Cys
- cosmic curated COSV10058
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.81
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available