V14I (p.Val14Ile) variant of BBS4 (BBSome complex member BBS4)
V14I (p.Val14Ile) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- 1000Genomes rs542595190
- ExAC rs542595190
- gnomAD rs542595190
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 9.37
- SIFT 0.22
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available