D41N (p.Asp41Asn) variant of CHEK1 (O14757)
D41N (p.Asp41Asn) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- cosmic curated COSV54022
- ExAC rs778668643
- TOPMed rs778668643
- gnomAD rs778668643
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.14
- CADD 20.90
- PolyPhen-2 0.04
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available