D18H (p.Asp18His) variant of ATM (Serine-protein kinase ATM)
D18H (p.Asp18His) 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 0.46 / 1. The record also includes published literature and structural context.
D18H (p.Asp18His) variant details
- p.Asp18His
- rs2078809121
- ClinGen CA382519240
- ClinVar RCV003085967
- Ensembl rs2078809121
- Uncertain significance
- Ataxia-telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.18
- MetaLR 0.39
- MetaSVM -0.25
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.40
- 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)