A20G (p.Ala20Gly) variant of ATM (Serine-protein kinase ATM)
A20G (p.Ala20Gly) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- rs2078809726
- ClinGen CA382519310
- ClinVar RCV001071690
- ClinVar RCV002355103
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.15
- MetaLR 0.25
- MetaSVM -0.79
- PolyPhen-2 0.97
- SIFT 0.35
- EVE 0.31
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)