L8P (p.Leu8Pro) variant of ATM (Serine-protein kinase ATM)
L8P (p.Leu8Pro) 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 0.55 / 1. The record also includes published literature and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- rs1555053885
- ClinGen CA382519029
- ClinVar RCV000794171
- ClinVar RCV004027473
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.98
- MetaLR 0.39
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- 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)