G101S (p.Gly101Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G101S (p.Gly101Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G101S (p.Gly101Ser) variant details
- p.Gly101Ser
- ExAC rs756978054
- gnomAD rs756978054
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.32
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available