A19T (p.Ala19Thr) variant of CHEK1 (O14757)
A19T (p.Ala19Thr) 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.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs1485882936
- gnomAD 11-125625818-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.081
- CADD 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available