I39L (p.Ile39Leu) variant of PCCB (P05166)
I39L (p.Ile39Leu) in PCCB (P05166) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I39L (p.Ile39Leu) variant details
- p.Ile39Leu
- gnomAD rs1208205672
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available