R13S (p.Arg13Ser) variant of PCCB (P05166)
R13S (p.Arg13Ser) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- ExAC rs751189567
- TOPMed rs751189567
- gnomAD rs751189567
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available