L8V (p.Leu8Val) variant of TULP1 (Tubby-related protein 1)
L8V (p.Leu8Val) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- TOPMed rs1278591973
- gnomAD rs1278591973
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available