D49N (p.Asp49Asn) variant of BBS1 (BBSome complex member BBS1)
D49N (p.Asp49Asn) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- TOPMed rs1384153100
- gnomAD rs1384153100
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available