S106R (p.Ser106Arg) variant of KRT2 (P35908)
S106R (p.Ser106Arg) in KRT2 (P35908) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S106R (p.Ser106Arg) variant details
- p.Ser106Arg
- 1000Genomes rs569110795
- ExAC rs569110795
- gnomAD rs569110795
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.25
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available