E72D (p.Glu72Asp) variant of TULP1 (Tubby-related protein 1)
E72D (p.Glu72Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E72D (p.Glu72Asp) variant details
- p.Glu72Asp
- rs2533809390
- ClinGen CA363784722
- ClinVar RCV003063828
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available