I10V (p.Ile10Val) variant of ATM (Serine-protein kinase ATM)
I10V (p.Ile10Val) 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 0.32 / 1. The record also includes published literature and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- rs876660671
- ClinGen CA10578939
- ClinVar RCV000214439
- ClinVar RCV006273665
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)