V104I (p.Val104Ile) variant of CASK (O14936)
V104I (p.Val104Ile) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V104I (p.Val104Ile) variant details
- p.Val104Ile
- ExAC rs761124811
- gnomAD rs761124811
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available