V30I (p.Val30Ile) variant of CHEK1 (O14757)
V30I (p.Val30Ile) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- ExAC rs781671034
- gnomAD rs781671034
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.08
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available