G77S (p.Gly77Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
G77S (p.Gly77Ser) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ISCA2-related disorder; Fatal multiple mitochondrial dysfunctions syndrome; Mult. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G77S (p.Gly77Ser) variant details
- p.Gly77Ser
- rs730882246
- ClinGen CA249967
- NCI-TCGA Cosmic COSV5314
- cosmic curated COSV53143
- Pathogenic/Likely pathogenic
- ISCA2-related disorder; Fatal multiple mitochondrial dysfunctions syndrome; Mult
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ISCA2-related disorder; Fatal multiple mitochondrial dysfunction)
- EBI: Pathogenic (in MMDS4)
- UniProt: Pathogenic (in MMDS4)
- Population evidence available
- Structural context available
- Cited in: ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. (PMID 25539947)
- Cited in: Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. (PMID 29122497)