P74T (p.Pro74Thr) variant of TULP1 (Tubby-related protein 1)
P74T (p.Pro74Thr) 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 0.19 / 1. The record also includes population frequency data and structural context.
P74T (p.Pro74Thr) variant details
- p.Pro74Thr
- 1000Genomes rs200713417
- TOPMed rs200713417
- gnomAD rs200713417
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.80
- PolyPhen-2 0.09
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available