Q19P (p.Gln19Pro) variant of BBS4 (BBSome complex member BBS4)
Q19P (p.Gln19Pro) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q19P (p.Gln19Pro) variant details
- p.Gln19Pro
- ExAC rs768719848
- gnomAD rs768719848
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.33
- MetaLR 0.18
- MetaSVM -0.94
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available