R40H (p.Arg40His) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R40H (p.Arg40His) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, 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 0.40 / 1. The record also includes population frequency data and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- 1000Genomes rs139304263
- ESP rs139304263
- ExAC rs139304263
- gnomAD rs139304263
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.36
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available