R10G (p.Arg10Gly) variant of SLC18A2 (Q05940)
R10G (p.Arg10Gly) in SLC18A2 (Q05940) 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 0.55 / 1. The record also includes population frequency data and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- rs1017954648
- ClinGen CA214674362
- ClinVar RCV001973864
- TOPMed rs1017954648
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.1e-05)
- Structural context available