K29T (p.Lys29Thr) variant of ATM (Serine-protein kinase ATM)
K29T (p.Lys29Thr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K29T (p.Lys29Thr) variant details
- p.Lys29Thr
- rs147009251
- ClinGen CA6264514
- ClinVar RCV000236878
- ClinVar RCV000694073
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.08
- 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)