G82D (p.Gly82Asp) variant of KRT12 (Keratin, type I cytoskeletal 12)
G82D (p.Gly82Asp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G82D (p.Gly82Asp) variant details
- p.Gly82Asp
- TOPMed rs946841672
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.65
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available