P95T (p.Pro95Thr) variant of TULP1 (Tubby-related protein 1)
P95T (p.Pro95Thr) 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 0.53 / 1. The record also includes population frequency data and structural context.
P95T (p.Pro95Thr) variant details
- p.Pro95Thr
- TOPMed rs924446814
- gnomAD rs924446814
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.43
- MetaSVM -0.38
- CADD 26.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available