V6F (p.Val6Phe) variant of BBS4 (BBSome complex member BBS4)
V6F (p.Val6Phe) 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 and structural context.
V6F (p.Val6Phe) variant details
- p.Val6Phe
- gnomAD rs1234241975
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.19
- MetaLR 0.18
- MetaSVM -0.93
- CADD 4.72
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available