S75N (p.Ser75Asn) variant of KRT2 (P35908)
S75N (p.Ser75Asn) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S75N (p.Ser75Asn) variant details
- p.Ser75Asn
- TOPMed rs1181021660
- gnomAD rs1181021660
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.56
- SIFT 0.29
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available