P49A (p.Pro49Ala) variant of CHEK1 (O14757)
P49A (p.Pro49Ala) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- rs76045215
- gnomAD 11-125625851-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0791
- CADD 0.00
- Most common in the HGDP:SAN population (allele frequency 0.5)
- Structural context available
- Literature evidence available