L18P (p.Leu18Pro) variant of CTNNA1 (Catenin alpha-1)
L18P (p.Leu18Pro) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Patterned macular dystrophy 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs769832131
- ClinGen CA361477137
- ClinVar RCV001368275
- ClinVar RCV002350705
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Patterned macular dystrophy 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Patterned macular dystr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)