N16D (p.Asn16Asp) variant of MYL2 (P10916)
N16D (p.Asn16Asp) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
N16D (p.Asn16Asp) variant details
- p.Asn16Asp
- rs2136777385
- ClinGen CA386700292
- ClinVar RCV001988420
- ClinVar RCV004697179
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- AlphaMissense 0.67
- MetaLR 0.69
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.46
- ClinVar: Uncertain significance (not provided; 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)