S16S (p.Ser16Ser) variant of BBS1 (BBSome complex member BBS1)

Name: BBS1 S16S (p.Ser16Ser) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

S16S (p.Ser16Ser) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.

S16S (p.Ser16Ser) variant details

p.Ser16Ser
rs200255383
gnomAD 11-66511013-C-T
Splice Region
Variant Prioritization Score for Impact Estimate 0.543
CADD 19.30
Most common in the Non-Finnish European population (allele frequency 2.9e-05)
Structural context available
Literature evidence available