A48V (p.Ala48Val) variant of TULP1 (Tubby-related protein 1)
A48V (p.Ala48Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- TOPMed rs906855472
- gnomAD rs906855472
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.89
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available