L15Q (p.Leu15Gln) variant of ATM (Serine-protein kinase ATM)
L15Q (p.Leu15Gln) 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 0.60 / 1. The record also includes published literature and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- rs1555053927
- ClinGen CA382519152
- ClinVar RCV000628060
- Ensembl rs1555053927
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.92
- MetaLR 0.53
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- 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)