V11L (p.Val11Leu) variant of TULP1 (Tubby-related protein 1)
V11L (p.Val11Leu) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- ESP rs145272099
- ExAC rs145272099
- TOPMed rs145272099
- gnomAD rs145272099
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.79
- MetaLR 0.62
- MetaSVM 0.33
- CADD 24.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available