L5L (p.Leu5Leu) variant of PCCB (P05166)
L5L (p.Leu5Leu) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- gnomAD 3-136250390-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available