A9A (p.Ala9Ala) variant of PCCB (P05166)
A9A (p.Ala9Ala) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs1402404407
- gnomAD 3-136250402-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.31
- Most common in the Ashkenazi Jewish population (allele frequency 4.3e-05)
- Structural context available
- Literature evidence available