H137N (p.His137Asn) variant of TUBB2B (Tubulin beta-2B chain)
H137N (p.His137Asn) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H137N (p.His137Asn) variant details
- p.His137Asn
- gnomAD 6-3225680-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.77
- AlphaMissense 0.92
- MetaLR 0.65
- MetaSVM 0.57
- CADD 27.00
- PolyPhen-2 0.81
- Population evidence available
- Structural context available
- Literature evidence available