S76N (p.Ser76Asn) variant of BBS2 (BBSome complex member BBS2)
S76N (p.Ser76Asn) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
S76N (p.Ser76Asn) variant details
- p.Ser76Asn
- Ensembl rs895169510
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.09
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.00
- CADD 22.40
- PolyPhen-2 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available