E77K (p.Glu77Lys) variant of MRE11 (P49959)
E77K (p.Glu77Lys) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Depression; Dementia; Parkinsonian disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- rs779269083
- ClinGen CA6235438
- NCI-TCGA Cosmic COSV6057
- cosmic curated COSV60576
- Uncertain significance
- Depression; Dementia; Parkinsonian disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.30
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Depression; Dementia; Parkinsonian disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)