A26A (p.Ala26Ala) variant of BBS1 (BBSome complex member BBS1)
A26A (p.Ala26Ala) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A26A (p.Ala26Ala) variant details
- p.Ala26Ala
- rs2134765264
- gnomAD 11-66511043-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0958
- CADD 2.37
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available
- Literature evidence available