E60Q (p.Glu60Gln) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E60Q (p.Glu60Gln) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypothyroidism, congenital, nongoitrous, 5; Ventricular septal defect 3; Hypopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- rs766199339
- ClinGen CA3563837
- cosmic curated COSV10023
- ClinVar RCV001318738
- Conflicting interpretations
- Hypothyroidism, congenital, nongoitrous, 5; Ventricular septal defect 3; Hypopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.19
- CADD 20.80
- PolyPhen-2 0.07
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Hypothyroidism, congenital, nongoitrous, 5; Ventricular septal d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available