M1K (p.Met1Lys) variant of PCCA (P05165)
M1K (p.Met1Lys) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs372093520
- ClinGen CA388692577
- ClinVar RCV000790481
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)