R82P (p.Arg82Pro) variant of TULP1 (Tubby-related protein 1)
R82P (p.Arg82Pro) 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 0.14 / 1. The record also includes population frequency data and structural context.
R82P (p.Arg82Pro) variant details
- p.Arg82Pro
- ExAC rs753258431
- TOPMed rs753258431
- gnomAD rs753258431
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 4.03
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available