L43P (p.Leu43Pro) variant of TPM1 (Tropomyosin alpha-1 chain)
L43P (p.Leu43Pro) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- rs2031853048
- ClinGen CA392718506
- ClinVar RCV001090837
- Ensembl rs2031853048
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.38
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available