Q9R (p.Gln9Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
Q9R (p.Gln9Arg) 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 0.70 / 1. The record also includes population frequency data and structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- rs1555402931
- ClinGen CA392717970
- ClinVar RCV001211860
- Ensembl rs1555402931
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.73
- AlphaMissense 0.16
- MetaLR 0.94
- MetaSVM 1.04
- CADD 31.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available