R24S (p.Arg24Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R24S (p.Arg24Ser) 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 0.18 / 1. The record also includes population frequency data and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- ExAC rs764749883
- gnomAD rs764749883
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.20
- CADD 12.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available