I34F (p.Ile34Phe) variant of ATM (Serine-protein kinase ATM)
I34F (p.Ile34Phe) 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 0.39 / 1. The record also includes structural context.
I34F (p.Ile34Phe) variant details
- p.Ile34Phe
- rs1555054094
- ClinGen CA382519700
- ClinVar RCV000780916
- Ensembl rs1555054094
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.22
- MetaLR 0.21
- MetaSVM -0.42
- PolyPhen-2 0.50
- SIFT 0.03
- EVE 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available