S24F (p.Ser24Phe) variant of KRT8 (Keratin, type II cytoskeletal 8)
S24F (p.Ser24Phe) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- ExAC rs774320109
- TOPMed rs774320109
- gnomAD rs774320109
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)