K10* (p.Lys10Ter) variant of RP2 (Protein XRP2)
K10* (p.Lys10Ter) in RP2 (Protein XRP2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
K10* (p.Lys10Ter) variant details
- p.Lys10Ter
- rs1556313447
- ClinGen CA413038194
- ClinVar RCV003890471
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.09
- MetaLR 0.49
- MetaSVM -0.45
- PolyPhen-2 0.00
- SIFT 0.51
- MutPred 0.26
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available