A4A (p.Ala4Ala) variant of PCCB (P05166)
A4A (p.Ala4Ala) 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.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs1476876445
- gnomAD 3-136250387-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.70
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)
- Structural context available
- Literature evidence available