I44T (p.Ile44Thr) variant of BBS4 (BBSome complex member BBS4)
I44T (p.Ile44Thr) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I44T (p.Ile44Thr) variant details
- p.Ile44Thr
- gnomAD rs1360298049
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.19
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.24
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available