L3Q (p.Leu3Gln) variant of TULP1 (Tubby-related protein 1)
L3Q (p.Leu3Gln) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L3Q (p.Leu3Gln) variant details
- p.Leu3Gln
- TOPMed rs1311186934
- gnomAD rs1311186934
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.58
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available