R35T (p.Arg35Thr) variant of TPM1 (Tropomyosin alpha-1 chain)
R35T (p.Arg35Thr) 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 not specified; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R35T (p.Arg35Thr) variant details
- p.Arg35Thr
- rs730881152
- ClinGen CA018569
- ClinVar RCV000159402
- ClinVar RCV001850242
- Uncertain significance
- not specified; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.43
- CADD 25.10
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available