P4L (p.Pro4Leu) variant of CHEK1 (O14757)
P4L (p.Pro4Leu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD 11-125626779-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.35
- CADD 22.90
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available