S16N (p.Ser16Asn) variant of BBS1 (BBSome complex member BBS1)
S16N (p.Ser16Asn) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S16N (p.Ser16Asn) variant details
- p.Ser16Asn
- cosmic curated COSV10738
- Ensembl rs1855920301
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.33
- CADD 33.00
- PolyPhen-2 0.37
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available