N14I (p.Asn14Ile) variant of MYL2 (P10916)
N14I (p.Asn14Ile) 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 0.39 / 1. The record also includes published literature and structural context.
N14I (p.Asn14Ile) variant details
- p.Asn14Ile
- rs2071704259
- ClinGen CA386700302
- ClinVar RCV003631049
- Ensembl rs2071704259
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.61
- MetaLR 0.23
- MetaSVM -0.64
- PolyPhen-2 0.90
- SIFT 0.00
- MutPred 0.34
- 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)