H57R (p.His57Arg) variant of TUBB3 (Tubulin beta-3 chain)
H57R (p.His57Arg) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H57R (p.His57Arg) variant details
- p.His57Arg
- ExAC rs761094494
- gnomAD rs761094494
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available