A48D (p.Ala48Asp) variant of TULP1 (Tubby-related protein 1)
A48D (p.Ala48Asp) 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 0.18 / 1. The record also includes population frequency data and structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- TOPMed rs906855472
- gnomAD rs906855472
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 8.87
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available