D25E (p.Asp25Glu) variant of BBS1 (BBSome complex member BBS1)
D25E (p.Asp25Glu) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- rs772010847
- ClinGen CA6123230
- ClinVar RCV003889600
- ExAC rs772010847
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.50
- CADD 0.53
- PolyPhen-2 0.22
- SIFT 0.16
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available