V4I (p.Val4Ile) variant of ATM (Serine-protein kinase ATM)
V4I (p.Val4Ile) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- rs1438588853
- ClinGen CA382518937
- ClinVar RCV000627990
- ClinVar RCV001017298
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.31
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)