V14L (p.Val14Leu) variant of BBS4 (BBSome complex member BBS4)
V14L (p.Val14Leu) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- gnomAD 15-72686547-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0536
- CADD 0.85
- SIFT 0.16
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available