F25Y (p.Phe25Tyr) variant of MRE11 (P49959)
F25Y (p.Phe25Tyr) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F25Y (p.Phe25Tyr) variant details
- p.Phe25Tyr
- rs1947266764
- ClinGen CA382380906
- ClinVar RCV002239164
- Ensembl rs1947266764
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.25
- AlphaMissense 0.11
- MetaLR 0.17
- MetaSVM -0.81
- CADD 15.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available