P95Q (p.Pro95Gln) variant of EYA1 (Protein phosphatase EYA1)
P95Q (p.Pro95Gln) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BOR1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P95Q (p.Pro95Gln) variant details
- p.Pro95Gln
- ExAC rs759310166
- TOPMed rs759310166
- gnomAD rs759310166
- Uncertain significance
- in BOR1
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.65
- MetaLR 0.78
- MetaSVM 0.68
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in BOR1)
- UniProt: Uncertain significance (in BOR1)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available