L69P (p.Leu69Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L69P (p.Leu69Pro) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L69P (p.Leu69Pro) variant details
- p.Leu69Pro
- UniProt VAR 038220
- Pathogenic
- in ASD7
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.26
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.15
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)