K47T (p.Lys47Thr) variant of USH1C (Harmonin)
K47T (p.Lys47Thr) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes experimental measurements, published literature, and structural context.
K47T (p.Lys47Thr) variant details
- p.Lys47Thr
- rs1455042541
- ClinGen CA379798567
- ClinVar RCV004484407
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.18
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 1.00
- SIFT 0.23
- MutPred 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.375
- 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)