N72K (p.Asn72Lys) variant of BBS2 (BBSome complex member BBS2)
N72K (p.Asn72Lys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N72K (p.Asn72Lys) variant details
- p.Asn72Lys
- ESP rs375853147
- ExAC rs375853147
- gnomAD rs375853147
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.62
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available