P54L (p.Pro54Leu) variant of TULP1 (Tubby-related protein 1)
P54L (p.Pro54Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- rs2533811452
- ClinGen CA363784950
- ClinVar RCV003043310
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available