T21R (p.Thr21Arg) variant of ATM (Serine-protein kinase ATM)
T21R (p.Thr21Arg) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
T21R (p.Thr21Arg) variant details
- p.Thr21Arg
- rs1442769051
- ClinGen CA382519331
- ClinVar RCV003866561
- ClinVar RCV006347966
- Uncertain significance
- Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.35
- MetaLR 0.31
- MetaSVM -0.34
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.62
- ClinVar: Uncertain significance (Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing s)
- 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)