Q33L (p.Gln33Leu) variant of TULP1 (Tubby-related protein 1)
Q33L (p.Gln33Leu) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q33L (p.Gln33Leu) variant details
- p.Gln33Leu
- 1000Genomes rs528561510
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 28.40
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available