N28S (p.Asn28Ser) variant of CHEK1 (O14757)
N28S (p.Asn28Ser) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- ExAC rs755282936
- gnomAD rs755282936
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.48
- CADD 21.50
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available