F106L (p.Phe106Leu) variant of TULP1 (Tubby-related protein 1)
F106L (p.Phe106Leu) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F106L (p.Phe106Leu) variant details
- p.Phe106Leu
- cosmic curated COSV57694
- TOPMed rs1166588666
- gnomAD rs1166588666
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available