V135I (p.Val135Ile) variant of IFT172 (Q9UG01)
V135I (p.Val135Ile) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polyda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V135I (p.Val135Ile) variant details
- p.Val135Ile
- rs201476743
- ClinGen CA44518436
- ClinVar RCV001300883
- ClinVar RCV002493587
- Uncertain significance
- Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polyda
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.14
- CADD 23.30
- PolyPhen-2 0.37
- SIFT 0.12
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available