G85E (p.Gly85Glu) variant of KRT1 (Keratin, type II cytoskeletal 1)
G85E (p.Gly85Glu) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.47 / 1. The record also includes population frequency data and structural context.
G85E (p.Gly85Glu) variant details
- p.Gly85Glu
- ESP rs138041295
- ExAC rs138041295
- TOPMed rs138041295
- gnomAD rs138041295
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.41
- CADD 18.80
- PolyPhen-2 0.56
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available