S58N (p.Ser58Asn) variant of KRT8 (Keratin, type II cytoskeletal 8)
S58N (p.Ser58Asn) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
S58N (p.Ser58Asn) variant details
- p.Ser58Asn
- 1000Genomes rs536780728
- ExAC rs536780728
- TOPMed rs536780728
- gnomAD rs536780728
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 11.00
- PolyPhen-2 0.24
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)