M26T (p.Met26Thr) variant of PCCA (P05165)
M26T (p.Met26Thr) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M26T (p.Met26Thr) variant details
- p.Met26Thr
- rs2541952464
- ClinGen CA388692726
- ClinVar RCV003003165
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.02
- 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)