R84Q (p.Arg84Gln) variant of KRT3 (Keratin, type II cytoskeletal 3)
R84Q (p.Arg84Gln) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- rs757365353
- NCI-TCGA Cosmic COSV5881
- ExAC rs757365353
- TOPMed rs757365353
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.11
- CADD 7.38
- PolyPhen-2 0.14
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available