A24A (p.Ala24Ala) variant of PCCB (P05166)
A24A (p.Ala24Ala) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A24A (p.Ala24Ala) variant details
- p.Ala24Ala
- rs1389353704
- gnomAD 3-136250447-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 2.52
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available