E22Q (p.Glu22Gln) variant of MYL2 (P10916)
E22Q (p.Glu22Gln) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- 1000Genomes rs104894368
- ExAC rs104894368
- TOPMed rs104894368
- gnomAD rs104894368
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.56
- CADD 25.90
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Cardiomyopathy)
- EBI: Pathogenic (in CMH10)
- UniProt: Pathogenic (in CMH10)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available