T55K (p.Thr55Lys) variant of TULP1 (Tubby-related protein 1)
T55K (p.Thr55Lys) 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 0.18 / 1. The record also includes population frequency data and structural context.
T55K (p.Thr55Lys) variant details
- p.Thr55Lys
- rs1163569465
- ClinGen CA363784942
- ClinVar RCV002740640
- Ensembl rs1163569465
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 5.05
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.2e-05)
- Structural context available