R69Q (p.Arg69Gln) variant of SLC22A6 (Q4U2R8)
R69Q (p.Arg69Gln) in SLC22A6 (Q4U2R8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- rs144356509
- cosmic curated COSV64560
- ESP rs144356509
- ExAC rs144356509
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.05
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available