G68D (p.Gly68Asp) variant of KRT17 (Keratin, type I cytoskeletal 17)
G68D (p.Gly68Asp) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- rs752629599
- ClinGen CA8563819
- ClinVar RCV002667441
- ExAC rs752629599
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.33
- MetaLR 0.51
- MetaSVM -0.07
- PolyPhen-2 0.53
- SIFT 0.01
- EVE 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available