N33D (p.Asn33Asp) variant of BBS1 (BBSome complex member BBS1)
N33D (p.Asn33Asp) 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, published literature, and structural context.
N33D (p.Asn33Asp) variant details
- p.Asn33Asp
- gnomAD 11-66511062-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.21
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available