R45G (p.Arg45Gly) variant of KRT2 (P35908)
R45G (p.Arg45Gly) in KRT2 (P35908) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- ESP rs202186833
- ExAC rs202186833
- TOPMed rs202186833
- gnomAD rs202186833
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.22
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available