S34G (p.Ser34Gly) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S34G (p.Ser34Gly) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S34G (p.Ser34Gly) variant details
- p.Ser34Gly
- 1000Genomes rs548276151
- ExAC rs548276151
- gnomAD rs548276151
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.25
- CADD 23.90
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available