V205I (p.Val205Ile) variant of PCCB (P05166)
V205I (p.Val205Ile) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V205I (p.Val205Ile) variant details
- p.Val205Ile
- rs141956198
- ClinGen CA2631798
- cosmic curated COSV52449
- ClinVar RCV001248739
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance (in PA-2)
- UniProt: Uncertain significance (in PA-2)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)