T44I (p.Thr44Ile) variant of EYA1 (Protein phosphatase EYA1)
T44I (p.Thr44Ile) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- rs774402195
- ExAC rs774402195
- TOPMed rs774402195
- gnomAD rs774402195
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.38
- MetaLR 0.41
- MetaSVM -0.28
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available