G31S (p.Gly31Ser) variant of TBCD (Tubulin-specific chaperone D)
G31S (p.Gly31Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- gnomAD 17-82752284-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.03
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available