G116R (p.Gly116Arg) variant of KRT2 (P35908)
G116R (p.Gly116Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- rs1941253363
- ClinGen CA384943291
- ClinVar RCV001109692
- TOPMed rs1941253363
- Uncertain significance
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.55
- CADD 14.50
- PolyPhen-2 0.56
- SIFT 0.28
- ClinVar: Uncertain significance (Ichthyosis bullosa of Siemens)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available