L34I (p.Leu34Ile) variant of NKX2-1 (Homeobox protein Nkx-2.1)
L34I (p.Leu34Ile) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Brain-lung-thyroid syndrome; Benign hereditary chorea; not provided. 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.
L34I (p.Leu34Ile) variant details
- p.Leu34Ile
- rs201631950
- ClinGen CA7158568
- ClinVar RCV000861436
- ClinVar RCV001109019
- Conflicting interpretations
- Brain-lung-thyroid syndrome; Benign hereditary chorea; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM 0.10
- PolyPhen-2 0.99
- SIFT 0.15
- EVE 0.35
- ClinVar: Conflicting classifications of pathogenicity (Brain-lung-thyroid syndrome; Benign hereditary chorea; not provi)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)