T100I (p.Thr100Ile) variant of EYA1 (Protein phosphatase EYA1)
T100I (p.Thr100Ile) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T100I (p.Thr100Ile) variant details
- p.Thr100Ile
- rs373501480
- ClinGen CA371468668
- ClinVar RCV002467291
- ESP rs373501480
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.45
- MetaLR 0.68
- MetaSVM 0.33
- CADD 24.90
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available