I70L (p.Ile70Leu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
I70L (p.Ile70Leu) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes population frequency data and structural context.
I70L (p.Ile70Leu) variant details
- p.Ile70Leu
- 1000Genomes rs546022490
- ExAC rs546022490
- gnomAD rs546022490
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.42
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available