T74N (p.Thr74Asn) variant of MRE11 (P49959)
T74N (p.Thr74Asn) 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; not provided; Ataxia-telangiectasia-like di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T74N (p.Thr74Asn) variant details
- p.Thr74Asn
- rs201054129
- ClinGen CA6235441
- ClinVar RCV000565496
- ClinVar RCV003767106
- Uncertain significance
- Ataxia-telangiectasia-like disorder; not provided; Ataxia-telangiectasia-like di
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- AlphaMissense 0.07
- MetaLR 0.34
- MetaSVM -0.69
- CADD 13.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; not provided; Ataxia-telang)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)