M5K (p.Met5Lys) variant of PPARGC1A (Q9UBK2)
M5K (p.Met5Lys) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PPARGC1A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
M5K (p.Met5Lys) variant details
- p.Met5Lys
- rs773095749
- ClinGen CA356608003
- ClinVar RCV003896562
- NCI-TCGA Cosmic COSV5353
- Uncertain significance
- PPARGC1A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.30
- MetaLR 0.06
- MetaSVM -1.15
- PolyPhen-2 0.61
- SIFT 0.19
- MutPred 0.20
- ClinVar: Uncertain significance (PPARGC1A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available