V14D (p.Val14Asp) variant of BBS4 (BBSome complex member BBS4)
V14D (p.Val14Asp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V14D (p.Val14Asp) variant details
- p.Val14Asp
- gnomAD 15-72686557-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 11.40
- SIFT 0.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available