G107S (p.Gly107Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G107S (p.Gly107Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G107S (p.Gly107Ser) variant details
- p.Gly107Ser
- 1000Genomes rs765830157
- ExAC rs765830157
- gnomAD rs765830157
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.38
- CADD 11.60
- PolyPhen-2 0.37
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available