K102T (p.Lys102Thr) variant of IFT172 (Q9UG01)
K102T (p.Lys102Thr) 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 0.59 / 1. The record also includes population frequency data and structural context.
K102T (p.Lys102Thr) variant details
- p.Lys102Thr
- TOPMed rs1417967814
- gnomAD rs1417967814
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Bardet-Biedl syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.55
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.03
- 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 African/African-American population (allele frequency 3e-05)
- Structural context available