L14L (p.Leu14Leu) variant of PCCB (P05166)
L14L (p.Leu14Leu) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 3-136250417-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 5.97
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available