R2G (p.Arg2Gly) variant of ERBB3 (P21860)
R2G (p.Arg2Gly) in ERBB3 (P21860) 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 0.28 / 1. The record also includes population frequency data and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- TOPMed rs1410872951
- gnomAD rs1410872951
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -0.76
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available