D58N (p.Asp58Asn) variant of BBS1 (BBSome complex member BBS1)
D58N (p.Asp58Asn) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- gnomAD 11-66514418-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.81
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available