H6N (p.His6Asn) variant of TUBB3 (Tubulin beta-3 chain)
H6N (p.His6Asn) in TUBB3 (Tubulin beta-3 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.
H6N (p.His6Asn) variant details
- p.His6Asn
- gnomAD 16-89923417-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.21
- CADD 24.40
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available