A18V (p.Ala18Val) variant of PCCB (P05166)
A18V (p.Ala18Val) 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; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs769481450
- ClinGen CA2631557
- ClinVar RCV003062696
- ClinVar RCV005255740
- Uncertain significance
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.77
- MetaSVM 0.16
- CADD 7.62
- ClinVar: Uncertain significance (not provided; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)