E15D (p.Glu15Asp) variant of BBS1 (BBSome complex member BBS1)
E15D (p.Glu15Asp) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- cosmic curated COSV59148
- ExAC rs767116799
- gnomAD rs767116799
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.39
- CADD 17.30
- PolyPhen-2 0.28
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available