H4N (p.His4Asn) variant of TTR (Transthyretin)
H4N (p.His4Asn) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H4N (p.His4Asn) variant details
- p.His4Asn
- gnomAD 18-31591912-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.27
- MetaLR 0.79
- MetaSVM 0.11
- CADD 17.50
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available