H137P (p.His137Pro) variant of TUBB2B (Tubulin beta-2B chain)
H137P (p.His137Pro) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
H137P (p.His137Pro) variant details
- p.His137Pro
- gnomAD 6-3225679-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.84
- CADD 24.40
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available