R45S (p.Arg45Ser) variant of KRT2 (P35908)
R45S (p.Arg45Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- ESP rs202186833
- ExAC rs202186833
- TOPMed rs202186833
- gnomAD rs202186833
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- CADD 18.40
- PolyPhen-2 0.20
- SIFT 0.22
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available