D8D (p.Asp8Asp) variant of BBS1 (BBSome complex member BBS1)
D8D (p.Asp8Asp) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D8D (p.Asp8Asp) variant details
- p.Asp8Asp
- rs55848325
- gnomAD 11-66510683-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 13.70
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)