P36T (p.Pro36Thr) variant of EYS (Protein eyes shut homolog)
P36T (p.Pro36Thr) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
P36T (p.Pro36Thr) variant details
- p.Pro36Thr
- rs1562221891
- gnomAD rs1562221891
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.29
- CADD 16.30
- PolyPhen-2 0.56
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available