P7T (p.Pro7Thr) variant of TBCD (Tubulin-specific chaperone D)
P7T (p.Pro7Thr) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- TOPMed rs2047134926
- gnomAD rs2047134926
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- CADD 13.40
- PolyPhen-2 0.13
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available