N38I (p.Asn38Ile) variant of EYA1 (Protein phosphatase EYA1)
N38I (p.Asn38Ile) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N38I (p.Asn38Ile) variant details
- p.Asn38Ile
- ExAC rs750274491
- TOPMed rs750274491
- gnomAD rs750274491
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.30
- MetaLR 0.38
- MetaSVM -0.26
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available