A11S (p.Ala11Ser) variant of BBS1 (BBSome complex member BBS1)
A11S (p.Ala11Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- cosmic curated COSV10056
- gnomAD rs1228682382
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.39
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available