N28D (p.Asn28Asp) variant of CHEK1 (O14757)
N28D (p.Asn28Asp) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N28D (p.Asn28Asp) variant details
- p.Asn28Asp
- rs1479690184
- gnomAD 11-125625836-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 10.80
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available