N16S (p.Asn16Ser) variant of MYL2 (P10916)
N16S (p.Asn16Ser) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
N16S (p.Asn16Ser) variant details
- p.Asn16Ser
- rs2071704153
- ClinGen CA386700289
- ClinVar RCV001316404
- ClinVar RCV001760386
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.13
- MetaLR 0.63
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.42
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Cardiovascular phenotype; not pr)
- 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)