E45K (p.Glu45Lys) variant of EYA1 (Protein phosphatase EYA1)
E45K (p.Glu45Lys) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD rs1373021054
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.32
- MetaLR 0.40
- MetaSVM -0.49
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available