A13V (p.Ala13Val) variant of TULP1 (Tubby-related protein 1)
A13V (p.Ala13Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- 1000Genomes rs187701943
- ExAC rs187701943
- TOPMed rs187701943
- gnomAD rs187701943
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- ESM-1b 0.00
- AlphaMissense 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available