L14V (p.Leu14Val) variant of PCCB (P05166)
L14V (p.Leu14Val) 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 0.26 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- TOPMed rs1215705998
- gnomAD rs1215705998
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available