D7Y (p.Asp7Tyr) variant of ATM (Serine-protein kinase ATM)
D7Y (p.Asp7Tyr) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
D7Y (p.Asp7Tyr) variant details
- p.Asp7Tyr
- rs2078806188
- ClinGen CA382519006
- ClinVar RCV003501880
- Uncertain significance
- Ataxia-telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.20
- MetaLR 0.20
- MetaSVM -0.72
- PolyPhen-2 0.02
- SIFT 0.10
- MutPred 0.32
- ClinVar: Uncertain significance (Ataxia-telangiectasia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)