R23P (p.Arg23Pro) variant of ATM (Serine-protein kinase ATM)
R23P (p.Arg23Pro) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a colorectal adenocarcinoma sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- rs587779858
- ClinGen CA382519363
- ClinVar RCV001061028
- ClinVar RCV001177188
- Uncertain significance
- in a colorectal adenocarcinoma sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.72
- MetaLR 0.57
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- EBI: Variant of uncertain significance (in a colorectal adenocarcinoma sample)
- UniProt: Uncertain significance (in a colorectal adenocarcinoma sample)
- 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)