V25I (p.Val25Ile) variant of PCCB (P05166)
V25I (p.Val25Ile) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- rs968929973
- ClinGen CA84265575
- ClinVar RCV003097484
- gnomAD rs968929973
- Uncertain significance
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.28
- ESM-1b 0.79
- AlphaMissense 0.10
- CADD 7.35
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)