G11R (p.Gly11Arg) variant of MYL2 (P10916)
G11R (p.Gly11Arg) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs397516402
- ClinGen CA010093
- ClinVar RCV000036392
- ClinVar RCV000678724
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- 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)