D5N (p.Asp5Asn) variant of MRE11 (P49959)
D5N (p.Asp5Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs1947322463
- ClinGen CA382381575
- ClinVar RCV002889671
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available