R25K (p.Arg25Lys) variant of CFTR (P13569)
R25K (p.Arg25Lys) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- gnomAD rs1309801039
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.79
- CADD 0.34
- Population evidence available
- Structural context available