P74S (p.Pro74Ser) variant of TULP1 (Tubby-related protein 1)
P74S (p.Pro74Ser) 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.
P74S (p.Pro74Ser) variant details
- p.Pro74Ser
- 1000Genomes rs200713417
- TOPMed rs200713417
- gnomAD rs200713417
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available