H51P (p.His51Pro) variant of TTR (Transthyretin)
H51P (p.His51Pro) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H51P (p.His51Pro) variant details
- p.His51Pro
- TOPMed rs1381337412
- gnomAD rs1381337412
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.27
- MetaLR 0.74
- MetaSVM 0.01
- CADD 13.50
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available