H11R (p.His11Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
H11R (p.His11Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H11R (p.His11Arg) variant details
- p.His11Arg
- TOPMed rs1940416594
- gnomAD rs1940416594
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.03
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available