Y24C (p.Tyr24Cys) variant of TUBA1A (Tubulin alpha-1A chain)
Y24C (p.Tyr24Cys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- rs2121248469
- ClinGen CA384645803
- ClinVar RCV001900922
- Ensembl rs2121248469
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.79
- MetaLR 0.60
- MetaSVM 0.45
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available