L98F (p.Leu98Phe) variant of EYA1 (Protein phosphatase EYA1)
L98F (p.Leu98Phe) in EYA1 (Protein phosphatase EYA1) is a missense change. 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.
L98F (p.Leu98Phe) variant details
- p.Leu98Phe
- ExAC rs766184209
- TOPMed rs766184209
- gnomAD rs766184209
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.59
- MetaLR 0.78
- MetaSVM 0.57
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available