D5G (p.Asp5Gly) variant of TBCD (Tubulin-specific chaperone D)
D5G (p.Asp5Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- gnomAD rs2047134623
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.06
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available