G84V (p.Gly84Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
G84V (p.Gly84Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G84V (p.Gly84Val) variant details
- p.Gly84Val
- ExAC rs756755206
- TOPMed rs756755206
- gnomAD rs756755206
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.21
- CADD 15.20
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available