P59S (p.Pro59Ser) variant of TULP1 (Tubby-related protein 1)
P59S (p.Pro59Ser) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes population frequency data and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- ExAC rs755762321
- TOPMed rs755762321
- gnomAD rs755762321
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 26.40
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available