S7L (p.Ser7Leu) variant of BBS1 (BBSome complex member BBS1)
S7L (p.Ser7Leu) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- gnomAD 11-66510679-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.33
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available