L8P (p.Leu8Pro) variant of TTR (Transthyretin)
L8P (p.Leu8Pro) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD 18-31591925-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.76
- MetaLR 0.94
- MetaSVM 1.08
- CADD 28.10
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available