D2G (p.Asp2Gly) variant of KRT12 (Keratin, type I cytoskeletal 12)
D2G (p.Asp2Gly) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- ExAC rs772315405
- gnomAD rs772315405
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.16
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available