P12A (p.Pro12Ala) variant of TBCD (Tubulin-specific chaperone D)
P12A (p.Pro12Ala) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- rs368393853
- gnomAD 17-82752906-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 4.36
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Literature evidence available