P52L (p.Pro52Leu) variant of TULP1 (Tubby-related protein 1)
P52L (p.Pro52Leu) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- rs550864319
- ClinGen CA137293135
- ClinVar RCV003002164
- 1000Genomes rs550864319
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available