S42F (p.Ser42Phe) variant of KRT10 (Keratin, type I cytoskeletal 10)
S42F (p.Ser42Phe) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- rs142050024
- ClinGen CA8548355
- ClinVar RCV002130600
- 1000Genomes rs142050024
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)