V49I (p.Val49Ile) variant of TUBB3 (Tubulin beta-3 chain)
V49I (p.Val49Ile) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- gnomAD rs1398545228
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.65
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available