A20T (p.Ala20Thr) variant of ATM (Serine-protein kinase ATM)
A20T (p.Ala20Thr) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1555053946
- ClinGen CA382519297
- ClinVar RCV000563287
- ClinVar RCV001055893
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.21
- MetaLR 0.34
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.60
- 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)