R84G (p.Arg84Gly) variant of KRT3 (Keratin, type II cytoskeletal 3)
R84G (p.Arg84Gly) in KRT3 (Keratin, type II cytoskeletal 3) 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 0.25 / 1. The record also includes population frequency data and structural context.
R84G (p.Arg84Gly) variant details
- p.Arg84Gly
- 1000Genomes rs62617086
- ESP rs62617086
- ExAC rs62617086
- TOPMed rs62617086
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.28
- CADD 8.02
- PolyPhen-2 0.07
- SIFT 0.25
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available