H43R (p.His43Arg) variant of BBS2 (BBSome complex member BBS2)
H43R (p.His43Arg) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
H43R (p.His43Arg) variant details
- p.His43Arg
- gnomAD rs1372233418
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.80
- CADD 25.70
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available