V46I (p.Val46Ile) variant of CHEK1 (O14757)
V46I (p.Val46Ile) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- cosmic curated COSV10512
- ExAC rs768467449
- TOPMed rs768467449
- gnomAD rs768467449
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.07
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available