T481K (p.Thr481Lys) variant of MRE11 (P49959)
T481K (p.Thr481Lys) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ataxia-telangiectasia-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T481K (p.Thr481Lys) variant details
- p.Thr481Lys
- rs137852762
- ClinGen CA119927
- ClinVar RCV000009330
- ClinVar RCV003591623
- Likely pathogenic
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.74
- AlphaMissense 0.95
- MetaLR 0.52
- MetaSVM -0.13
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Ataxia-telangiectasia-like disorder)
- EBI: Pathogenic (in ATLD1)
- UniProt: Pathogenic (in ATLD1)
- Population evidence available
- Structural context available
- Cited in: MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. (PMID 15269180)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)