I7V (p.Ile7Val) variant of TUBB3 (Tubulin beta-3 chain)
I7V (p.Ile7Val) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- cosmic curated COSV10732
- TOPMed rs1237423262
- gnomAD rs1237423262
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.03
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available