G31R (p.Gly31Arg) variant of TBCD (Tubulin-specific chaperone D)
G31R (p.Gly31Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- gnomAD 17-82752284-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.03
- CADD 21.50
- PolyPhen-2 0.27
- SIFT 0.52
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available