L15Q (p.Leu15Gln) variant of CHEK1 (O14757)
L15Q (p.Leu15Gln) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- Ensembl rs2135968727
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.71
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available