R58G (p.Arg58Gly) variant of RNF215 (RING finger protein 215)
R58G (p.Arg58Gly) in RNF215 (RING finger protein 215) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- 1000Genomes rs1239529124
- TOPMed rs1239529124
- gnomAD rs1239529124
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available