K14N (p.Lys14Asn) variant of EP300 (Histone acetyltransferase p300)
K14N (p.Lys14Asn) in EP300 (Histone acetyltransferase p300) 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 0.77 / 1. The record also includes published literature and structural context.
K14N (p.Lys14Asn) variant details
- p.Lys14Asn
- rs2145665576
- Ensembl rs2145665576
- ClinGen CA411679441
- ClinVar RCV003194454
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)