G13E (p.Gly13Glu) variant of BBS1 (BBSome complex member BBS1)
G13E (p.Gly13Glu) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- 1000Genomes rs571597274
- ExAC rs571597274
- gnomAD rs571597274
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.28
- CADD 7.47
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available