Q9L (p.Gln9Leu) variant of TPM1 (Tropomyosin alpha-1 chain)
Q9L (p.Gln9Leu) 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 0.69 / 1. The record also includes structural context.
Q9L (p.Gln9Leu) variant details
- p.Gln9Leu
- rs1555402931
- ClinGen CA392717971
- ClinVar RCV000521387
- ClinVar RCV001857996
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.16
- MetaLR 0.94
- MetaSVM 1.04
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.27
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available