D116E (p.Asp116Glu) variant of TULP1 (Tubby-related protein 1)
D116E (p.Asp116Glu) in TULP1 (Tubby-related protein 1) 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 0.14 / 1. The record also includes population frequency data and structural context.
D116E (p.Asp116Glu) variant details
- p.Asp116Glu
- TOPMed rs1179878512
- gnomAD rs1179878512
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available