P12S (p.Pro12Ser) variant of TBCD (Tubulin-specific chaperone D)
P12S (p.Pro12Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- TOPMed rs1449546253
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.00
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the HGDP:BIAKA population (allele frequency 0.32)
- Structural context available