G48C (p.Gly48Cys) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G48C (p.Gly48Cys) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G48C (p.Gly48Cys) variant details
- p.Gly48Cys
- Ensembl rs1342631539
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.46
- CADD 16.60
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available