I138T (p.Ile138Thr) variant of BBS2 (BBSome complex member BBS2)
I138T (p.Ile138Thr) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I138T (p.Ile138Thr) variant details
- p.Ile138Thr
- gnomAD rs1386789664
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.58
- AlphaMissense 0.13
- MetaLR 0.55
- MetaSVM -0.12
- CADD 22.50
- PolyPhen-2 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available