A23V (p.Ala23Val) variant of PCCB (P05166)
A23V (p.Ala23Val) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs2529731469
- ClinGen CA354737925
- ClinVar RCV002766781
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)