L18R (p.Leu18Arg) variant of CTNNA1 (Catenin alpha-1)
L18R (p.Leu18Arg) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- ExAC rs769832131
- gnomAD rs769832131
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.60
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.34
- CADD 29.30
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available