E15K (p.Glu15Lys) variant of TBCD (Tubulin-specific chaperone D)
E15K (p.Glu15Lys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- gnomAD 17-82752236-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.02
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available