N19K (p.Asn19Lys) variant of RP2 (Protein XRP2)
N19K (p.Asn19Lys) in RP2 (Protein XRP2) 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 0.20 / 1. The record also includes population frequency data and structural context.
N19K (p.Asn19Lys) variant details
- p.Asn19Lys
- rs1924523153
- ClinGen CA413038256
- ClinVar RCV001341652
- Ensembl rs1924523153
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.25
- CADD 7.32
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available