K35Q (p.Lys35Gln) variant of TTR (Transthyretin)
K35Q (p.Lys35Gln) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
K35Q (p.Lys35Gln) variant details
- p.Lys35Gln
- Ensembl rs2073493221
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.85
- MetaLR 0.91
- MetaSVM 1.02
- CADD 26.30
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available