M3I (p.Met3Ile) variant of EYA1 (Protein phosphatase EYA1)
M3I (p.Met3Ile) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
M3I (p.Met3Ile) variant details
- p.Met3Ile
- rs1826704843
- ClinGen CA371529758
- ClinVar RCV001196411
- Ensembl rs1826704843
- Uncertain significance
- Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.53
- MetaLR 0.83
- MetaSVM 0.65
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchioot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available