P21P (p.Pro21Pro) variant of BBS4 (BBSome complex member BBS4)
P21P (p.Pro21Pro) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P21P (p.Pro21Pro) variant details
- p.Pro21Pro
- rs267604309
- gnomAD 15-72695215-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0838
- CADD 0.44
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available