V40I (p.Val40Ile) variant of CASK (O14936)
V40I (p.Val40Ile) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- 1000Genomes rs749242018
- ExAC rs749242018
- gnomAD rs749242018
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.15
- CADD 22.20
- PolyPhen-2 0.36
- SIFT 0.11
- Most common in the 1KG:ESN population (allele frequency 0.0068)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.121