D39N (p.Asp39Asn) variant of TUBB3 (Tubulin beta-3 chain)
D39N (p.Asp39Asn) 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 0.40 / 1. The record also includes population frequency data and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- rs761851735
- ClinGen CA8255945
- ClinVar RCV003428016
- ExAC rs761851735
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.15
- CADD 26.20
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available