G106A (p.Gly106Ala) variant of KRT12 (Keratin, type I cytoskeletal 12)
G106A (p.Gly106Ala) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G106A (p.Gly106Ala) variant details
- p.Gly106Ala
- ExAC rs748892293
- TOPMed rs748892293
- gnomAD rs748892293
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.17
- CADD 5.36
- PolyPhen-2 0.03
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available