Q78R (p.Gln78Arg) variant of MYH6 (Myosin-6)
Q78R (p.Gln78Arg) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q78R (p.Gln78Arg) variant details
- p.Gln78Arg
- rs772216708
- ClinGen CA7116220
- ClinVar RCV000600539
- ClinVar RCV002291678
- Uncertain significance
- not provided; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.10
- CADD 20.10
- PolyPhen-2 0.22
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)