G131V (p.Gly131Val) variant of G6PD (P11413)
G131V (p.Gly131Val) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G131V (p.Gly131Val) variant details
- p.Gly131Val
- rs137852341
- ClinGen CA121025
- cosmic curated COSV10592
- ClinVar RCV000011147
- Pathogenic/Likely pathogenic
- not provided; Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.85
- CADD 21.70
- PolyPhen-2 0.88
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (not provided; Malaria, susceptibility to; Anemia, nonspherocytic)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the… (PMID 8364584)
- Cited in: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and… (PMID 8471773)