M1V (p.Met1Val) variant of PCCA (P05165)
M1V (p.Met1Val) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs976571199
- ClinGen CA255963362
- ClinVar RCV002595887
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.92
- MetaSVM 1.10
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)