L3P (p.Leu3Pro) variant of ATM (Serine-protein kinase ATM)
L3P (p.Leu3Pro) 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 0.44 / 1. The record also includes published literature and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- rs1555053861
- ClinGen CA382518931
- ClinVar RCV000538660
- ClinVar RCV001018626
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.41
- MetaLR 0.30
- MetaSVM -0.58
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.33
- 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)