K141E (p.Lys141Glu) variant of IFT172 (Q9UG01)
K141E (p.Lys141Glu) 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 0.49 / 1. The record also includes population frequency data and structural context.
K141E (p.Lys141Glu) variant details
- p.Lys141Glu
- rs760582917
- ClinGen CA1580985
- ClinVar RCV001909082
- ClinVar RCV002490220
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Bardet-Biedl syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.37
- CADD 27.70
- PolyPhen-2 0.90
- 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 Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available