G20R (p.Gly20Arg) variant of PCCB (P05166)
G20R (p.Gly20Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- ExAC rs777726717
- TOPMed rs777726717
- gnomAD rs777726717
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 14.80
- PolyPhen-2 0.47
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available