T56R (p.Thr56Arg) variant of RP2 (Protein XRP2)
T56R (p.Thr56Arg) 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 0.50 / 1. The record also includes structural context.
T56R (p.Thr56Arg) variant details
- p.Thr56Arg
- rs1201646093
- ClinGen CA413038925
- ClinVar RCV003863711
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.07
- MetaLR 0.61
- MetaSVM -0.21
- PolyPhen-2 0.61
- SIFT 0.03
- EVE 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available