P12R (p.Pro12Arg) variant of TBCD (Tubulin-specific chaperone D)
P12R (p.Pro12Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs572553646
- gnomAD 17-82752907-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.29
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available