M90V (p.Met90Val) variant of MYH6 (Myosin-6)
M90V (p.Met90Val) 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; Hypertrophic cardiomyo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M90V (p.Met90Val) variant details
- p.Met90Val
- rs778199745
- ClinGen CA7116217
- ClinVar RCV001323339
- ClinVar RCV002223300
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; Hypertrophic cardiomyo
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.77
- CADD 23.80
- PolyPhen-2 0.52
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; Hypert)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)