L9P (p.Leu9Pro) variant of TTR (Transthyretin)
L9P (p.Leu9Pro) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- gnomAD 18-31591928-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.71
- MetaLR 0.92
- MetaSVM 0.99
- CADD 25.50
- PolyPhen-2 0.83
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available