V14C (p.Val14Cys) variant of BBS4 (BBSome complex member BBS4)
V14C (p.Val14Cys) in BBS4 (BBSome complex member BBS4) is a protein-truncating 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.
V14C (p.Val14Cys) variant details
- p.Val14Cys
- gnomAD 15-72686544-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.74
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available