R13K (p.Arg13Lys) variant of PCCB (P05166)
R13K (p.Arg13Lys) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- rs1941477030
- ClinGen CA354737868
- ClinVar RCV001242860
- gnomAD rs1941477030
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.28
- ESM-1b 0.09
- AlphaMissense 0.19
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)