R75C (p.Arg75Cys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R75C (p.Arg75Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R75C (p.Arg75Cys) variant details
- p.Arg75Cys
- rs1216673146
- ClinGen CA362163449
- ClinVar RCV001754501
- TOPMed rs1216673146
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available