F18S (p.Phe18Ser) variant of MYL2 (P10916)
F18S (p.Phe18Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- rs730880944
- ClinGen CA010495
- ClinVar RCV000158913
- ClinVar RCV000852440
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.98
- MetaLR 0.77
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.58
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Likely pathogenic (in CMH10)
- UniProt: Likely pathogenic (in CMH10)
- 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)