V40A (p.Val40Ala) variant of CASK (O14936)
V40A (p.Val40Ala) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD rs1241515079
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.33
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.121