N33S (p.Asn33Ser) variant of BBS1 (BBSome complex member BBS1)
N33S (p.Asn33Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- gnomAD 11-66511063-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.39
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available