N19R (p.Asn19Arg) variant of RP2 (Protein XRP2)
N19R (p.Asn19Arg) in RP2 (Protein XRP2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N19R (p.Asn19Arg) variant details
- p.Asn19Arg
- gnomAD X-46837150-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available