Q47R (p.Gln47Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
Q47R (p.Gln47Arg) 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 provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- rs1060501864
- ClinGen CA16614465
- ClinVar RCV000469579
- ClinVar RCV001770332
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.29
- MetaLR 0.44
- MetaSVM -0.27
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.26
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available