A438D (p.Ala438Asp) variant of PCCB (P05166)
A438D (p.Ala438Asp) in PCCB (P05166) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
A438D (p.Ala438Asp) variant details
- p.Ala438Asp
- rs2529974111
- ClinGen CA354649293
- ClinVar RCV003131883
- Conflicting interpretations
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Conflicting classifications of pathogenicity (Propionic acidemia)
- UniProt: Conflicting interpretations
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)