S5F (p.Ser5Phe) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S5F (p.Ser5Phe) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of KRT6A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- rs563614469
- ClinGen CA6582364
- ClinVar RCV003932241
- 1000Genomes rs563614469
- Likely benign
- KRT6A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.12
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Likely benign (KRT6A-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available