M8K (p.Met8Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
M8K (p.Met8Lys) 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 0.88 / 1. The record also includes structural context.
M8K (p.Met8Lys) variant details
- p.Met8Lys
- rs397516364
- ClinGen CA392717962
- ClinVar RCV001302170
- Ensembl rs397516364
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.36
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available