V39G (p.Val39Gly) variant of MYH7 (Myosin-7)
V39G (p.Val39Gly) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
V39G (p.Val39Gly) variant details
- p.Val39Gly
- rs2138686733
- ClinGen CA389053856
- ClinVar RCV001774839
- Ensembl rs2138686733
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CMH1)
- UniProt: Uncertain significance (in CMH1)
- Structural context available