A54V (p.Ala54Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A54V (p.Ala54Val) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar 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 0.25 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- ExAC rs775438004
- gnomAD rs775438004
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.19
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available