R17P (p.Arg17Pro) variant of BBS2 (BBSome complex member BBS2)
R17P (p.Arg17Pro) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R17P (p.Arg17Pro) variant details
- p.Arg17Pro
- ExAC rs746353796
- gnomAD rs746353796
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.48
- CADD 26.80
- PolyPhen-2 0.75
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available