A18A (p.Ala18Ala) variant of PCCB (P05166)
A18A (p.Ala18Ala) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs1343618692
- gnomAD 3-136250429-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 9.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available