N44K (p.Asn44Lys) variant of BBS2 (BBSome complex member BBS2)
N44K (p.Asn44Lys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
N44K (p.Asn44Lys) variant details
- p.Asn44Lys
- rs1555523987
- ClinGen CA395986415
- ClinVar RCV000503385
- Ensembl rs1555523987
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.69
- MetaLR 0.39
- MetaSVM -0.27
- SIFT 0.01
- MutPred 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available