V37I (p.Val37Ile) variant of MYH7 (Myosin-7)
V37I (p.Val37Ile) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs2502322556
- ClinGen CA389053880
- ClinVar RCV002450615
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.53
- MetaSVM -0.25
- CADD 21.90
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available