A12A (p.Ala12Ala) variant of PCCB (P05166)
A12A (p.Ala12Ala) in PCCB (P05166) is a synonymous 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.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 3-136250411-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 5.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available