R19G (p.Arg19Gly) variant of SLC22A5 (O76082)
R19G (p.Arg19Gly) in SLC22A5 (O76082) 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 0.63 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs1319889867
- ClinGen CA360802288
- ClinVar RCV004526398
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.65
- CADD 23.20
- PolyPhen-2 0.22
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in CDSP)
- UniProt: Uncertain significance (in CDSP)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available