A2A (p.Ala2Ala) variant of CHEK1 (O14757)
A2A (p.Ala2Ala) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 11-125625772-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0997
- CADD 2.69
- Population evidence available
- Structural context available
- Literature evidence available