L318S (p.Leu318Ser) variant of CTNNA1 (Catenin alpha-1)
L318S (p.Leu318Ser) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Patterned macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
L318S (p.Leu318Ser) variant details
- p.Leu318Ser
- rs869320696
- ClinGen CA358867
- ClinVar RCV000210752
- UniProt VAR 076588
- Pathogenic
- Patterned macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 1.00
- MetaLR 0.16
- MetaSVM -0.91
- PolyPhen-2 0.73
- SIFT 0.22
- EVE 0.42
- ClinVar: Pathogenic (Patterned macular dystrophy 2)
- EBI: Pathogenic (in MDPT2)
- UniProt: Pathogenic (in MDPT2)
- Structural context available
- Cited in: Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. (PMID 26691986)
- Cited in: Butterfly-shaped pigment dystrophy of the fovea. (PMID 5442145)