H6R (p.His6Arg) variant of TUBB3 (Tubulin beta-3 chain)
H6R (p.His6Arg) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H6R (p.His6Arg) variant details
- p.His6Arg
- gnomAD 16-89923418-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.53
- CADD 26.10
- PolyPhen-2 0.61
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available