A79D (p.Ala79Asp) variant of TULP1 (Tubby-related protein 1)
A79D (p.Ala79Asp) 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 0.28 / 1. The record also includes population frequency data and structural context.
A79D (p.Ala79Asp) variant details
- p.Ala79Asp
- rs2533809311
- ClinGen CA363784643
- ClinVar RCV002721690
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available