A4A (p.Ala4Ala) variant of BBS1 (BBSome complex member BBS1)
A4A (p.Ala4Ala) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs754161831
- gnomAD 11-66510671-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available