L9F (p.Leu9Phe) variant of ATM (Serine-protein kinase ATM)
L9F (p.Leu9Phe) 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 0.47 / 1. The record also includes published literature and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- rs2078806539
- ClinGen CA382519034
- ClinVar RCV001296454
- ClinVar RCV004951452
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.26
- MetaLR 0.33
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.65
- 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)