P52H (p.Pro52His) variant of TULP1 (Tubby-related protein 1)
P52H (p.Pro52His) 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 0.34 / 1. The record also includes population frequency data and structural context.
P52H (p.Pro52His) variant details
- p.Pro52His
- 1000Genomes rs550864319
- TOPMed rs550864319
- gnomAD rs550864319
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 24.20
- PolyPhen-2 0.82
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available