F51L (p.Phe51Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
F51L (p.Phe51Leu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ASD7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- rs753937287
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- UniProt VAR 038218
- Pathogenic
- in ASD7
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.85
- MetaLR 0.48
- MetaSVM -0.18
- PolyPhen-2 0.03
- SIFT 1.00
- EVE 0.13
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Structural context available
- Cited in: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. (PMID 15342699)
- Cited in: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID 10587520)