D2H (p.Asp2His) variant of TPM1 (Tropomyosin alpha-1 chain)
D2H (p.Asp2His) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- rs1060501865
- ClinGen CA16614538
- ClinVar RCV000457778
- ClinVar RCV004992233
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available