V14V (p.Val14Val) variant of BBS4 (BBSome complex member BBS4)
V14V (p.Val14Val) in BBS4 (BBSome complex member BBS4) 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.
V14V (p.Val14Val) variant details
- p.Val14Val
- rs113994181
- gnomAD 15-72695194-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 3.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available