D181V (p.Asp181Val) variant of G6PD (P11413)
D181V (p.Asp181Val) 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; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D181V (p.Asp181Val) variant details
- p.Asp181Val
- rs5030872
- ClinGen CA130188
- ClinVar RCV000011109
- ClinVar RCV000030892
- Pathogenic/Likely pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.61
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (not provided; Anemia, nonspherocytic hemolytic, due to G6PD defi)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. (PMID 1879833)
- Cited in: The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. (PMID 1978554)