A53V (p.Ala53Val) variant of EYA1 (Protein phosphatase EYA1)
A53V (p.Ala53Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- rs776352141
- ClinGen CA4779874
- ClinVar RCV002583111
- ClinVar RCV004725311
- Uncertain significance
- Melnick-Fraser syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.98
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Melnick-Fraser syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available