L5S (p.Leu5Ser) variant of PCCB (P05166)
L5S (p.Leu5Ser) in PCCB (P05166) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L5S (p.Leu5Ser) variant details
- p.Leu5Ser
- gnomAD rs1292452485
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.81
- MetaSVM 0.27
- CADD 17.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available