D28Y (p.Asp28Tyr) variant of TPM1 (Tropomyosin alpha-1 chain)
D28Y (p.Asp28Tyr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D28Y (p.Asp28Tyr) variant details
- p.Asp28Tyr
- rs397516391
- ClinGen CA019427
- ClinVar RCV002269410
- ClinVar RCV002300669
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.63
- CADD 31.00
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available