I17V (p.Ile17Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
I17V (p.Ile17Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- TOPMed rs1176053334
- gnomAD rs1176053334
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.68
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available