R60L (p.Arg60Leu) variant of TULP1 (Tubby-related protein 1)
R60L (p.Arg60Leu) 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 0.31 / 1. The record also includes population frequency data and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- TOPMed rs1490623059
- gnomAD rs1490623059
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available