D45H (p.Asp45His) variant of MYL2 (P10916)
D45H (p.Asp45His) 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; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D45H (p.Asp45His) variant details
- p.Asp45His
- rs1363460648
- ClinGen CA386699348
- ClinVar RCV004015626
- ClinVar RCV005103352
- Uncertain significance
- Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.66
- AlphaMissense 0.75
- MetaLR 0.43
- MetaSVM -0.21
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- 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)