F12V (p.Phe12Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
F12V (p.Phe12Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F12V (p.Phe12Val) variant details
- p.Phe12Val
- gnomAD rs1363368305
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.93
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available