H17N (p.His17Asn) variant of ATM (Serine-protein kinase ATM)
H17N (p.His17Asn) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H17N (p.His17Asn) variant details
- p.His17Asn
- rs876658161
- ClinGen CA6264501
- cosmic curated COSV99062
- ClinVar RCV000219832
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.13
- MetaLR 0.14
- MetaSVM -0.94
- CADD 13.60
- PolyPhen-2 0.24
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)