S19G (p.Ser19Gly) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S19G (p.Ser19Gly) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- gnomAD rs1250691028
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.26
- CADD 22.30
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available