P13P (p.Pro13Pro) variant of BBS4 (BBSome complex member BBS4)
P13P (p.Pro13Pro) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P13P (p.Pro13Pro) variant details
- p.Pro13Pro
- rs990984115
- gnomAD 15-72695191-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 7.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available