L25I (p.Leu25Ile) variant of CHEK1 (O14757)
L25I (p.Leu25Ile) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L25I (p.Leu25Ile) variant details
- p.Leu25Ile
- ExAC rs766554164
- gnomAD rs766554164
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.26
- CADD 19.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available