G18R (p.Gly18Arg) variant of KRT2 (P35908)
G18R (p.Gly18Arg) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs779454673
- ClinGen CA6585984
- ClinVar RCV000405109
- ExAC rs779454673
- Uncertain significance
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.32
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Ichthyosis bullosa of Siemens)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available