S101N (p.Ser101Asn) variant of KRT2 (P35908)
S101N (p.Ser101Asn) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S101N (p.Ser101Asn) variant details
- p.Ser101Asn
- TOPMed rs1220238542
- gnomAD rs1220238542
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.10
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available