E307K (p.Glu307Lys) variant of CTNNA1 (Catenin alpha-1)
E307K (p.Glu307Lys) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E307K (p.Glu307Lys) variant details
- p.Glu307Lys
- rs869320697
- ClinGen CA358865
- ClinVar RCV000210750
- UniProt VAR 076587
- Pathogenic
- Patterned macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.34
- CADD 26.20
- PolyPhen-2 0.85
- SIFT 0.21
- ClinVar: Pathogenic (Patterned macular dystrophy 2)
- EBI: Pathogenic (in MDPT2)
- UniProt: Pathogenic (in MDPT2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. (PMID 26691986)