H42R (p.His42Arg) variant of BBS4 (BBSome complex member BBS4)
H42R (p.His42Arg) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H42R (p.His42Arg) variant details
- p.His42Arg
- ExAC rs767043854
- gnomAD rs767043854
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -1.02
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available