F30I (p.Phe30Ile) variant of ATM (Serine-protein kinase ATM)
F30I (p.Phe30Ile) 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 0.46 / 1. The record also includes published literature and structural context.
F30I (p.Phe30Ile) variant details
- p.Phe30Ile
- rs2078817952
- ClinGen CA382519563
- ClinVar RCV001037226
- Ensembl rs2078817952
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.63
- MetaLR 0.34
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)