N51S (p.Asn51Ser) variant of CHEK1 (O14757)
N51S (p.Asn51Ser) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N51S (p.Asn51Ser) variant details
- p.Asn51Ser
- Ensembl rs1565361841
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available