S85Y (p.Ser85Tyr) variant of MYH11 (Myosin-11)
S85Y (p.Ser85Tyr) in MYH11 (Myosin-11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S85Y (p.Ser85Tyr) variant details
- p.Ser85Tyr
- Ensembl rs148687580
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.50
- AlphaMissense 0.52
- MetaLR 0.54
- MetaSVM 0.16
- CADD 25.80
- PolyPhen-2 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available