S15R (p.Ser15Arg) variant of BBS2 (BBSome complex member BBS2)
S15R (p.Ser15Arg) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- TOPMed rs1354385806
- gnomAD rs1354385806
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.61
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available