I36V (p.Ile36Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
I36V (p.Ile36Val) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- ExAC rs404970
- gnomAD rs404970
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.049
- REVEL 0.03
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available