P21R (p.Pro21Arg) variant of BBS4 (BBSome complex member BBS4)
P21R (p.Pro21Arg) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- rs1595906940
- gnomAD 15-72695212-ACCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available