L25P (p.Leu25Pro) variant of CHEK1 (O14757)
L25P (p.Leu25Pro) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- rs1262483486
- gnomAD 11-125625822-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.90
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available