S2N (p.Ser2Asn) variant of ATM (Serine-protein kinase ATM)
S2N (p.Ser2Asn) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- rs730881360
- ClinGen CA382518922
- ClinVar RCV000579727
- ClinVar RCV000821860
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.26
- MetaLR 0.22
- MetaSVM -0.72
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)