Q14R (p.Gln14Arg) variant of ATM (Serine-protein kinase ATM)
Q14R (p.Gln14Arg) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q14R (p.Gln14Arg) variant details
- p.Gln14Arg
- rs749776879
- ClinGen CA6264498
- ClinVar RCV000688270
- ExAC rs749776879
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)