K29R (p.Lys29Arg) variant of ATM (Serine-protein kinase ATM)
K29R (p.Lys29Arg) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- rs147009251
- ClinGen CA382519558
- ClinVar RCV003296581
- ClinVar RCV005102699
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)