D45N (p.Asp45Asn) variant of MYL2 (P10916)
D45N (p.Asp45Asn) 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 0.49 / 1. The record also includes published literature and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs1363460648
- ClinGen CA386699351
- ClinVar RCV001907114
- gnomAD rs1363460648
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.75
- MetaLR 0.43
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.42
- 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)