A438S (p.Ala438Ser) variant of PCCB (P05166)
A438S (p.Ala438Ser) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A438S (p.Ala438Ser) variant details
- p.Ala438Ser
- rs752758930
- ClinGen CA2632148
- ClinVar RCV001955180
- ExAC rs752758930
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0022)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)