V4L (p.Val4Leu) variant of ATM (Serine-protein kinase ATM)
V4L (p.Val4Leu) 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.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- rs1438588853
- TOPMed rs1438588853
- gnomAD rs1438588853
- ClinGen CA382518942
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-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)