Y15N (p.Tyr15Asn) variant of MYH6 (Myosin-6)
Y15N (p.Tyr15Asn) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYH6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Y15N (p.Tyr15Asn) variant details
- p.Tyr15Asn
- rs1229592151
- ClinGen CA389032189
- ClinVar RCV004531962
- TOPMed rs1229592151
- Uncertain significance
- MYH6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.77
- CADD 26.40
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (MYH6-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available