E31G (p.Glu31Gly) variant of MYL2 (P10916)
E31G (p.Glu31Gly) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- rs2136777256
- ClinGen CA386700189
- ClinVar RCV001901581
- ClinVar RCV004808154
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.87
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)