G12D (p.Gly12Asp) variant of MYL2 (P10916)
G12D (p.Gly12Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs762584624
- ClinGen CA386700313
- ClinVar RCV002048578
- ExAC rs762584624
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.34
- MetaLR 0.54
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.48
- MutPred 0.28
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)