I42S (p.Ile42Ser) variant of BBS2 (BBSome complex member BBS2)
I42S (p.Ile42Ser) in BBS2 (BBSome complex member BBS2) 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 and structural context.
I42S (p.Ile42Ser) variant details
- p.Ile42Ser
- gnomAD rs1308936851
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.93
- CADD 28.00
- PolyPhen-2 0.79
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available