P99R (p.Pro99Arg) variant of EYA1 (Protein phosphatase EYA1)
P99R (p.Pro99Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P99R (p.Pro99Arg) variant details
- p.Pro99Arg
- ExAC rs763005068
- TOPMed rs763005068
- gnomAD rs763005068
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.63
- MetaLR 0.68
- MetaSVM 0.48
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available