Y36C (p.Tyr36Cys) variant of TUBB3 (Tubulin beta-3 chain)
Y36C (p.Tyr36Cys) 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 0.35 / 1. The record also includes structural context.
Y36C (p.Tyr36Cys) variant details
- p.Tyr36Cys
- rs2151091993
- ClinGen CA397470920
- ClinVar RCV003006335
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.37
- MetaLR 0.25
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available