E13K (p.Glu13Lys) variant of TBCD (Tubulin-specific chaperone D)
E13K (p.Glu13Lys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- TOPMed rs1411439196
- gnomAD rs1411439196
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.03
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available