S4G (p.Ser4Gly) variant of TBCD (Tubulin-specific chaperone D)
S4G (p.Ser4Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- gnomAD 17-82752203-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0699
- REVEL 0.04
- CADD 7.29
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available