P61S (p.Pro61Ser) variant of BBS1 (BBSome complex member BBS1)
P61S (p.Pro61Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P61S (p.Pro61Ser) variant details
- p.Pro61Ser
- TOPMed rs999363451
- gnomAD rs999363451
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.27
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available