R6H (p.Arg6His) variant of KRT16 (Keratin, type I cytoskeletal 16)
R6H (p.Arg6His) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs765533099
- ExAC rs765533099
- TOPMed rs765533099
- gnomAD rs765533099
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.15
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available