F30S (p.Phe30Ser) variant of TBCD (Tubulin-specific chaperone D)
F30S (p.Phe30Ser) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- gnomAD 17-82752280-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.50
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Literature evidence available