K6R (p.Lys6Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
K6R (p.Lys6Arg) 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 0.79 / 1. The record also includes structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs900504800
- ClinGen CA272020110
- ClinVar RCV000788388
- ClinVar RCV005092363
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.33
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.19
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available