V6G (p.Val6Gly) variant of BBS4 (BBSome complex member BBS4)
V6G (p.Val6Gly) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- gnomAD 15-72686244-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -1.01
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available