P49L (p.Pro49Leu) variant of CHEK1 (O14757)
P49L (p.Pro49Leu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- rs1424287019
- gnomAD 11-125625948-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- Literature evidence available