E17K (p.Glu17Lys) variant of TBCD (Tubulin-specific chaperone D)
E17K (p.Glu17Lys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- gnomAD 17-82752242-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.07
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available