R40P (p.Arg40Pro) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R40P (p.Arg40Pro) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.51 / 1. The record also includes population frequency data and structural context.
R40P (p.Arg40Pro) variant details
- p.Arg40Pro
- 1000Genomes rs139304263
- ESP rs139304263
- ExAC rs139304263
- gnomAD rs139304263
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.60
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available