G95D (p.Gly95Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G95D (p.Gly95Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G95D (p.Gly95Asp) variant details
- p.Gly95Asp
- ExAC rs754553875
- TOPMed rs754553875
- gnomAD rs754553875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.51
- CADD 13.00
- PolyPhen-2 0.09
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available