H17D (p.His17Asp) variant of ATM (Serine-protein kinase ATM)
H17D (p.His17Asp) 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 0.33 / 1. The record also includes published literature and structural context.
H17D (p.His17Asp) variant details
- p.His17Asp
- rs876658161
- ClinGen CA382519197
- ClinVar RCV001183354
- TOPMed rs876658161
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.13
- MetaLR 0.14
- MetaSVM -0.94
- PolyPhen-2 0.24
- SIFT 0.06
- EVE 0.13
- 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)