G70E (p.Gly70Glu) variant of KRT12 (Keratin, type I cytoskeletal 12)
G70E (p.Gly70Glu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G70E (p.Gly70Glu) variant details
- p.Gly70Glu
- TOPMed rs1427940484
- gnomAD rs1427940484
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.32
- CADD 22.40
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available