A47V (p.Ala47Val) variant of MRE11 (P49959)
A47V (p.Ala47Val) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs730880378
- ClinGen CA185954
- ClinVar RCV000157663
- ClinVar RCV001011397
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Pathogenic (in ATLD1)
- UniProt: Pathogenic (in ATLD1)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. (PMID 24332946)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)