P37R (p.Pro37Arg) variant of TULP1 (Tubby-related protein 1)
P37R (p.Pro37Arg) 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.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- TOPMed rs1761225244
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 2.05
- PolyPhen-2 0.01
- SIFT 0.85
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available