G17D (p.Gly17Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G17D (p.Gly17Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- ExAC rs757055827
- TOPMed rs757055827
- gnomAD rs757055827
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available