R41G (p.Arg41Gly) variant of KRT16 (Keratin, type I cytoskeletal 16)
R41G (p.Arg41Gly) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- 1000Genomes rs111383277
- ESP rs111383277
- ExAC rs111383277
- TOPMed rs111383277
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.29
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available