N44S (p.Asn44Ser) variant of BBS2 (BBSome complex member BBS2)
N44S (p.Asn44Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- ExAC rs764000508
- TOPMed rs764000508
- gnomAD rs764000508
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.11
- CADD 21.80
- PolyPhen-2 0.08
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available