R26C (p.Arg26Cys) variant of PCCB (P05166)
R26C (p.Arg26Cys) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- ExAC rs764394169
- TOPMed rs764394169
- gnomAD rs764394169
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 24.50
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available