R95H (p.Arg95His) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R95H (p.Arg95His) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R95H (p.Arg95His) variant details
- p.Arg95His
- cosmic curated COSV10813
- ExAC rs763729448
- TOPMed rs763729448
- gnomAD rs763729448
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.27
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available