P121L (p.Pro121Leu) variant of IFT172 (Q9UG01)
P121L (p.Pro121Leu) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.53 / 1. The record also includes population frequency data and structural context.
P121L (p.Pro121Leu) variant details
- p.Pro121Leu
- rs765202929
- ClinGen CA1581006
- ClinVar RCV001204184
- ExAC rs765202929
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.42
- CADD 17.60
- PolyPhen-2 0.34
- SIFT 1.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available