E121D (p.Glu121Asp) variant of TULP1 (Tubby-related protein 1)
E121D (p.Glu121Asp) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E121D (p.Glu121Asp) variant details
- p.Glu121Asp
- TOPMed rs1031858478
- gnomAD rs1031858478
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available