R6P (p.Arg6Pro) variant of PCCB (P05166)
R6P (p.Arg6Pro) 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 0.48 / 1. The record also includes population frequency data and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- ExAC rs767965814
- TOPMed rs767965814
- gnomAD rs767965814
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.40
- PolyPhen-2 0.32
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available