Y88S (p.Tyr88Ser) variant of TULP1 (Tubby-related protein 1)
Y88S (p.Tyr88Ser) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
Y88S (p.Tyr88Ser) variant details
- p.Tyr88Ser
- ExAC rs762751444
- TOPMed rs762751444
- gnomAD rs762751444
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- ESM-1b 0.00
- AlphaMissense 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available