A83E (p.Ala83Glu) variant of TULP1 (Tubby-related protein 1)
A83E (p.Ala83Glu) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A83E (p.Ala83Glu) variant details
- p.Ala83Glu
- rs765249939
- ClinGen CA3772981
- ClinVar RCV002667105
- ClinVar RCV003889145
- Uncertain significance
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.54
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Retinal dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00045)
- Structural context available