R26P (p.Arg26Pro) variant of PCCB (P05166)
R26P (p.Arg26Pro) in PCCB (P05166) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- rs1941479615
- gnomAD 3-136250449-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available