F30V (p.Phe30Val) variant of TBCD (Tubulin-specific chaperone D)
F30V (p.Phe30Val) in TBCD (Tubulin-specific chaperone D) 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, published literature, and structural context.
F30V (p.Phe30Val) variant details
- p.Phe30Val
- gnomAD 17-82752281-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.12
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available