Q31L (p.Gln31Leu) variant of TUBA1A (Tubulin alpha-1A chain)
Q31L (p.Gln31Leu) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q31L (p.Gln31Leu) variant details
- p.Gln31Leu
- gnomAD 12-49186745-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.53
- MetaLR 0.27
- MetaSVM -0.63
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available