A8A (p.Ala8Ala) variant of PCCB (P05166)
A8A (p.Ala8Ala) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 3-136250399-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 8.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available