L3I (p.Leu3Ile) variant of ATM (Serine-protein kinase ATM)
L3I (p.Leu3Ile) 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 0.41 / 1. The record also includes population frequency data and structural context.
L3I (p.Leu3Ile) variant details
- p.Leu3Ile
- Ensembl rs7112053
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available