M92T (p.Met92Thr) variant of MYH6 (Myosin-6)
M92T (p.Met92Thr) in MYH6 (Myosin-6) 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 0.67 / 1. The record also includes population frequency data and structural context.
M92T (p.Met92Thr) variant details
- p.Met92Thr
- rs756371897
- ClinGen CA7116216
- ClinVar RCV003177679
- ExAC rs756371897
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.78
- CADD 25.50
- PolyPhen-2 0.55
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available