A30V (p.Ala30Val) variant of PCCA (P05165)
A30V (p.Ala30Val) in PCCA (P05165) 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 0.26 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- TOPMed rs2046034551
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available