I97V (p.Ile97Val) variant of EYA1 (Protein phosphatase EYA1)
I97V (p.Ile97Val) 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 Melnick-Fraser syndrome; Branchiootorenal syndrome 1; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I97V (p.Ile97Val) variant details
- p.Ile97Val
- rs1422583050
- ClinGen CA371468688
- ClinVar RCV001932776
- ClinVar RCV002478314
- Uncertain significance
- Melnick-Fraser syndrome; Branchiootorenal syndrome 1; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.44
- MetaLR 0.71
- MetaSVM 0.35
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Melnick-Fraser syndrome; Branchiootorenal syndrome 1; Branchioot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)