C11S (p.Cys11Ser) variant of ATM (Serine-protein kinase ATM)
C11S (p.Cys11Ser) 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 0.52 / 1. The record also includes published literature and structural context.
C11S (p.Cys11Ser) variant details
- p.Cys11Ser
- rs1364898025
- ClinGen CA382519074
- ClinVar RCV002454685
- ClinVar RCV002464650
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.77
- MetaLR 0.38
- MetaSVM -0.27
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.62
- 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)