S39N (p.Ser39Asn) variant of KRT2 (P35908)
S39N (p.Ser39Asn) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S39N (p.Ser39Asn) variant details
- p.Ser39Asn
- ESP rs376095204
- TOPMed rs376095204
- gnomAD rs376095204
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available