G32D (p.Gly32Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G32D (p.Gly32Asp) in KRT6B (Keratin, type II cytoskeletal 6B) 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
- gnomAD rs1394967245
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- CADD 23.50
- PolyPhen-2 0.68
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available