T86M (p.Thr86Met) variant of TULP1 (Tubby-related protein 1)
T86M (p.Thr86Met) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data and structural context.
T86M (p.Thr86Met) variant details
- p.Thr86Met
- ExAC rs761667984
- TOPMed rs761667984
- gnomAD rs761667984
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.20
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available