Q27R (p.Gln27Arg) variant of MYL2 (P10916)
Q27R (p.Gln27Arg) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary familial hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10; Hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs397516408
- ClinGen CA010526
- ClinVar RCV000036410
- ClinVar RCV000845333
- Conflicting interpretations
- Primary familial hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10; Hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.84
- MetaLR 0.51
- MetaSVM -0.05
- PolyPhen-2 0.97
- SIFT 0.02
- MutPred 0.40
- ClinVar: Conflicting classifications of pathogenicity (Primary familial hypertrophic cardiomyopathy; Hypertrophic cardi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)