V37G (p.Val37Gly) variant of CHEK1 (O14757)
V37G (p.Val37Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V37G (p.Val37Gly) variant details
- p.Val37Gly
- gnomAD 11-125627651-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.76
- CADD 21.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available