A18D (p.Ala18Asp) variant of TPM1 (Tropomyosin alpha-1 chain)
A18D (p.Ala18Asp) 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 0.80 / 1. The record also includes structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- rs730881150
- ClinGen CA019030
- ClinVar RCV002011025
- Ensembl rs730881150
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.85
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.10
- SIFT 0.03
- MutPred 0.28
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available