T8M (p.Thr8Met) variant of NKX2-5 (Homeobox protein Nkx-2.5)
T8M (p.Thr8Met) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- cosmic curated COSV61298
- ExAC rs768954078
- TOPMed rs768954078
- gnomAD rs768954078
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.59
- AlphaMissense 0.34
- MetaLR 0.92
- MetaSVM 1.04
- CADD 27.70
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available