I4F (p.Ile4Phe) variant of TUBB3 (Tubulin beta-3 chain)
I4F (p.Ile4Phe) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
I4F (p.Ile4Phe) variant details
- p.Ile4Phe
- 1000Genomes rs2144399233
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available