E54V (p.Glu54Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E54V (p.Glu54Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E54V (p.Glu54Val) variant details
- p.Glu54Val
- TOPMed rs1261741680
- gnomAD rs1261741680
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.59
- CADD 23.80
- PolyPhen-2 0.42
- SIFT 0.11
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available