M53I (p.Met53Ile) variant of NKX2-1 (Homeobox protein Nkx-2.1)
M53I (p.Met53Ile) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M53I (p.Met53Ile) variant details
- p.Met53Ile
- rs566702552
- ClinGen CA7158558
- ClinVar RCV002883519
- ClinVar RCV003777882
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.31
- MetaLR 0.36
- MetaSVM -0.40
- PolyPhen-2 0.92
- SIFT 0.21
- EVE 0.15
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)