M90T (p.Met90Thr) variant of MYH6 (Myosin-6)
M90T (p.Met90Thr) 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; Hypertrophic cardiomyopathy 14; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M90T (p.Met90Thr) variant details
- p.Met90Thr
- rs919307122
- ClinGen CA257799198
- ClinVar RCV000527362
- ClinVar RCV003319373
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.86
- CADD 26.40
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)