K80T (p.Lys80Thr) variant of IFT172 (Q9UG01)
K80T (p.Lys80Thr) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polyda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K80T (p.Lys80Thr) variant details
- p.Lys80Thr
- rs766853711
- ClinGen CA1581071
- cosmic curated COSV53134
- ClinVar RCV001300630
- Uncertain significance
- Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polyda
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)