G84A (p.Gly84Ala) variant of KRT12 (Keratin, type I cytoskeletal 12)
G84A (p.Gly84Ala) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G84A (p.Gly84Ala) variant details
- p.Gly84Ala
- ExAC rs756755206
- TOPMed rs756755206
- gnomAD rs756755206
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.13
- CADD 8.86
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available