N14K (p.Asn14Lys) variant of MYL2 (P10916)
N14K (p.Asn14Lys) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- rs878853980
- ClinGen CA386700300
- ClinVar RCV000639674
- ClinVar RCV004003899
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.75
- MetaLR 0.21
- MetaSVM -0.76
- PolyPhen-2 0.34
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- 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)