Q22R (p.Gln22Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q22R (p.Gln22Arg) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- rs201442000
- ClinGen CA206627
- cosmic curated COSV61299
- ClinVar RCV000193266
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.65
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance (in ASD7 and TOF)
- UniProt: Uncertain significance (in ASD7 and TOF)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available