I42F (p.Ile42Phe) variant of TUBA1A (Tubulin alpha-1A chain)
I42F (p.Ile42Phe) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I42F (p.Ile42Phe) variant details
- p.Ile42Phe
- gnomAD 12-49186713-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.37
- MetaLR 0.42
- MetaSVM -0.32
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available
- Literature evidence available