L33P (p.Leu33Pro) variant of ATM (Serine-protein kinase ATM)
L33P (p.Leu33Pro) 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 0.51 / 1. The record also includes published literature and structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- rs2078818941
- ClinGen CA382519697
- ClinVar RCV001344830
- Ensembl rs2078818941
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.43
- MetaLR 0.43
- MetaSVM -0.28
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.52
- 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)