A114T (p.Ala114Thr) variant of TULP1 (Tubby-related protein 1)
A114T (p.Ala114Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
A114T (p.Ala114Thr) variant details
- p.Ala114Thr
- rs1273033018
- ClinGen CA363783596
- ClinVar RCV001964784
- TOPMed rs1273033018
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.00
- PolyPhen-2 0.09
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available