R95C (p.Arg95Cys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R95C (p.Arg95Cys) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R95C (p.Arg95Cys) variant details
- p.Arg95Cys
- rs1244289450
- NCI-TCGA Cosmic COSV6129
- cosmic curated COSV61299
- gnomAD rs1244289450
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- CADD 25.40
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available