L50F (p.Leu50Phe) variant of TPM1 (Tropomyosin alpha-1 chain)
L50F (p.Leu50Phe) 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 Hypertrophic cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- rs1060501866
- ClinGen CA392718550
- ClinVar RCV000530381
- ClinVar RCV001755779
- Conflicting interpretations
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.76
- AlphaMissense 0.17
- MetaLR 0.76
- MetaSVM 0.28
- CADD 24.60
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available