D58E (p.Asp58Glu) variant of EYA1 (Protein phosphatase EYA1)
D58E (p.Asp58Glu) 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 0.34 / 1. The record also includes population frequency data and structural context.
D58E (p.Asp58Glu) variant details
- p.Asp58Glu
- rs370509332
- ESP rs370509332
- ExAC rs370509332
- TOPMed rs370509332
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- MetaLR 0.32
- MetaSVM -0.68
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available