Y43C (p.Tyr43Cys) variant of BBS4 (BBSome complex member BBS4)
Y43C (p.Tyr43Cys) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- gnomAD rs1157159655
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.56
- MetaLR 0.34
- MetaSVM -0.41
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available