A2V (p.Ala2Val) variant of PCCB (P05166)
A2V (p.Ala2Val) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs748003396
- ClinGen CA2631540
- ClinVar RCV003082939
- ExAC rs748003396
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.50
- ESM-1b 0.61
- AlphaMissense 0.24
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 7.1e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)