N14S (p.Asn14Ser) variant of MYL2 (P10916)
N14S (p.Asn14Ser) 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 0.39 / 1. The record also includes structural context.
N14S (p.Asn14Ser) variant details
- p.Asn14Ser
- rs2071704259
- ClinGen CA386700303
- ClinVar RCV002327847
- Ensembl rs2071704259
- Uncertain significance
- Cardiovascular phenotype
- 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 (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available