S2G (p.Ser2Gly) variant of ATM (Serine-protein kinase ATM)
S2G (p.Ser2Gly) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- rs1591445677
- ClinGen CA382518906
- ClinVar RCV000793955
- ClinVar RCV003166110
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)