V33A (p.Val33Ala) variant of IFT172 (Q9UG01)
V33A (p.Val33Ala) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac. 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.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- rs200884031
- ClinGen CA1581121
- ClinVar RCV000893150
- ClinVar RCV004551670
- Conflicting interpretations
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.49
- CADD 24.20
- PolyPhen-2 0.90
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.004)
- Structural context available