S26N (p.Ser26Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S26N (p.Ser26Asn) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S26N (p.Ser26Asn) variant details
- p.Ser26Asn
- gnomAD rs1375476320
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.23
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available