I16F (p.Ile16Phe) variant of TUBB3 (Tubulin beta-3 chain)
I16F (p.Ile16Phe) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.68 / 1. The record also includes population frequency data and structural context.
I16F (p.Ile16Phe) variant details
- p.Ile16Phe
- rs2144399297
- ClinGen CA397467142
- ClinVar RCV001575554
- Ensembl rs2144399297
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available