H11Q (p.His11Gln) variant of KRT6B (Keratin, type II cytoskeletal 6B)
H11Q (p.His11Gln) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H11Q (p.His11Gln) variant details
- p.His11Gln
- gnomAD rs1192635915
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.07
- CADD 3.42
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available