G32D (p.Gly32Asp) variant of KRT12 (Keratin, type I cytoskeletal 12)
G32D (p.Gly32Asp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- ExAC rs774365265
- gnomAD rs774365265
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.30
- CADD 21.40
- PolyPhen-2 0.31
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available