S84C (p.Ser84Cys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S84C (p.Ser84Cys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S84C (p.Ser84Cys) variant details
- p.Ser84Cys
- ExAC rs764967109
- gnomAD rs764967109
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.32
- CADD 22.20
- PolyPhen-2 0.16
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available