V135A (p.Val135Ala) variant of IFT172 (Q9UG01)
V135A (p.Val135Ala) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Short-rib thoracic dysplasia 10 with or without polydactyly; Bardet-Biedl syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V135A (p.Val135Ala) variant details
- p.Val135Ala
- TOPMed rs1486720022
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Bardet-Biedl syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.69
- CADD 29.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Bar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available