V35I (p.Val35Ile) variant of MYL3 (Myosin light chain 3)
V35I (p.Val35Ile) in MYL3 (Myosin light chain 3) 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 0.41 / 1. The record also includes structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- rs997633110
- ClinGen CA73781890
- ClinVar RCV001906344
- Ensembl rs997633110
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.75
- PolyPhen-2 0.03
- SIFT 0.20
- MutPred 0.10
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available