D33D (p.Asp33Asp) variant of GRN (Progranulin)
D33D (p.Asp33Asp) in GRN (Progranulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D33D (p.Asp33Asp) variant details
- p.Asp33Asp
- rs63750742
- gnomAD 17-44349263-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 6.66
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Cited in: Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia… (PMID 27632209)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)