P95L (p.Pro95Leu) variant of EYA1 (Protein phosphatase EYA1)
P95L (p.Pro95Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Melnick-Fraser syndrome; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P95L (p.Pro95Leu) variant details
- p.Pro95Leu
- ExAC rs759310166
- TOPMed rs759310166
- gnomAD rs759310166
- Conflicting interpretations
- Inborn genetic diseases; Melnick-Fraser syndrome; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.74
- MetaLR 0.74
- MetaSVM 0.60
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Melnick-Fraser syndrome; Branchiootic s)
- EBI: Variant of uncertain significance (in BOR1)
- UniProt: Uncertain significance (in BOR1)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available