E123D (p.Glu123Asp) variant of TULP1 (Tubby-related protein 1)
E123D (p.Glu123Asp) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E123D (p.Glu123Asp) variant details
- p.Glu123Asp
- rs1761188243
- ClinGen CA363783369
- ClinVar RCV003890995
- TOPMed rs1761188243
- Likely pathogenic
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0934
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Likely pathogenic (Retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available