R36C (p.Arg36Cys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R36C (p.Arg36Cys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- gnomAD rs1172036454
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.51
- CADD 26.20
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (Atrial septal defect 7)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available