I70F (p.Ile70Phe) variant of KRT6B (Keratin, type II cytoskeletal 6B)
I70F (p.Ile70Phe) 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 0.53 / 1. The record also includes population frequency data and structural context.
I70F (p.Ile70Phe) variant details
- p.Ile70Phe
- 1000Genomes rs546022490
- ExAC rs546022490
- gnomAD rs546022490
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.58
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available