L50I (p.Leu50Ile) variant of TPM1 (Tropomyosin alpha-1 chain)
L50I (p.Leu50Ile) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
L50I (p.Leu50Ile) variant details
- p.Leu50Ile
- rs1060501866
- ClinGen CA16614539
- ClinVar RCV000464388
- ClinVar RCV001712417
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.17
- MetaLR 0.76
- MetaSVM 0.28
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.67
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Hypertrophic cardiomyopa)
- EBI: Benign
- UniProt: Benign
- Structural context available