K25R (p.Lys25Arg) variant of ATM (Serine-protein kinase ATM)
K25R (p.Lys25Arg) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K25R (p.Lys25Arg) variant details
- p.Lys25Arg
- rs751310537
- ClinGen CA6264513
- ClinVar RCV001047586
- ExAC rs751310537
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)