S26R (p.Ser26Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S26R (p.Ser26Arg) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S26R (p.Ser26Arg) variant details
- p.Ser26Arg
- rs2113906717
- ClinGen CA362163729
- ClinVar RCV004493269
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.20
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available