A8V (p.Ala8Val) variant of PCCB (P05166)
A8V (p.Ala8Val) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PCCB-related disorder; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs764602019
- ClinGen CA2631550
- ClinVar RCV001302827
- ExAC rs764602019
- Uncertain significance
- PCCB-related disorder; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (PCCB-related disorder; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)