D174E (p.Asp174Glu) variant of BBS2 (BBSome complex member BBS2)
D174E (p.Asp174Glu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 2; Bardet-Biedl syndrome; Retinitis pigmentosa 74. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D174E (p.Asp174Glu) variant details
- p.Asp174Glu
- rs767373822
- ClinGen CA8066026
- ClinVar RCV000735928
- ClinVar RCV003460994
- Likely pathogenic
- Bardet-Biedl syndrome 2; Bardet-Biedl syndrome; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.65
- CADD 24.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 2; Bardet-Biedl syndrome; Retinitis pigmen)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. (PMID 12872256)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)