V37M (p.Val37Met) variant of CHEK1 (O14757)
V37M (p.Val37Met) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- Ensembl rs2135972101
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.27
- CADD 20.80
- PolyPhen-2 0.64
- SIFT 0.48
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available