M92V (p.Met92Val) variant of MYH7 (Myosin-7)
M92V (p.Met92Val) 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; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
M92V (p.Met92Val) variant details
- p.Met92Val
- rs1222065426
- ClinGen CA389053267
- ClinVar RCV001203247
- ClinVar RCV001562869
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.72
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available