E3K (p.Glu3Lys) variant of BBS4 (BBSome complex member BBS4)
E3K (p.Glu3Lys) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD 15-72686234-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- MetaLR 0.41
- MetaSVM -0.53
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available