T31A (p.Thr31Ala) variant of CHEK1 (O14757)
T31A (p.Thr31Ala) 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.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs77183579
- gnomAD 11-125625845-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0801
- CADD 0.00
- Most common in the HGDP:SAN population (allele frequency 0.5)
- Structural context available
- Literature evidence available