T8Q (p.Thr8Gln) variant of PCCA (P05165)
T8Q (p.Thr8Gln) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T8Q (p.Thr8Gln) variant details
- p.Thr8Gln
- rs1593996210
- gnomAD 13-100089138-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.90
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available