D74G (p.Asp74Gly) variant of TUBB3 (Tubulin beta-3 chain)
D74G (p.Asp74Gly) in TUBB3 (Tubulin beta-3 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 0.63 / 1. The record also includes structural context.
D74G (p.Asp74Gly) variant details
- p.Asp74Gly
- rs2030344761
- ClinGen CA397471290
- ClinVar RCV001092319
- Ensembl rs2030344761
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.98
- MetaLR 0.55
- MetaSVM 0.26
- PolyPhen-2 0.65
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available