N49D (p.Asn49Asp) variant of BBS2 (BBSome complex member BBS2)
N49D (p.Asn49Asp) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- rs2543741959
- ClinGen CA395986343
- ClinVar RCV003411355
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.17
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available