T56M (p.Thr56Met) variant of RP2 (Protein XRP2)
T56M (p.Thr56Met) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- rs1201646093
- ClinGen CA413038926
- NCI-TCGA Cosmic COSV5446
- ClinVar RCV001211919
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.28
- AlphaMissense 0.07
- MetaLR 0.61
- MetaSVM -0.21
- CADD 19.50
- PolyPhen-2 0.61
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available