P99T (p.Pro99Thr) variant of MYH7 (Myosin-7)
P99T (p.Pro99Thr) in MYH7 (Myosin-7) 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 0.86 / 1. The record also includes structural context.
P99T (p.Pro99Thr) variant details
- p.Pro99Thr
- TOPMed rs1485804763
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.09
- CADD 28.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available