I87F (p.Ile87Phe) variant of EYA1 (Protein phosphatase EYA1)
I87F (p.Ile87Phe) 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.
I87F (p.Ile87Phe) variant details
- p.Ile87Phe
- cosmic curated COSV10038
- Ensembl rs1822645441
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.45
- MetaLR 0.56
- MetaSVM -0.12
- CADD 26.60
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available