S10R (p.Ser10Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S10R (p.Ser10Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- 1000Genomes rs561690979
- ExAC rs561690979
- gnomAD rs561690979
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.05
- CADD 20.60
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available