R16W (p.Arg16Trp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R16W (p.Arg16Trp) 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 0.26 / 1. The record also includes population frequency data and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- ExAC rs768946287
- TOPMed rs768946287
- gnomAD rs768946287
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.27
- CADD 16.60
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available