L17L (p.Leu17Leu) variant of PCCB (P05166)
L17L (p.Leu17Leu) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs200185747
- gnomAD 3-136250424-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 8.36
- Most common in the Latino/Admixed American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)