R35G (p.Arg35Gly) variant of TPM1 (Tropomyosin alpha-1 chain)
R35G (p.Arg35Gly) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- rs1596297347
- ClinGen CA392718151
- ClinVar RCV001371252
- TOPMed rs1596297347
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.56
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available