M1R (p.Met1Arg) variant of RP2 (Protein XRP2)
M1R (p.Met1Arg) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs797044561
- ClinGen CA413038135
- ClinVar RCV002824425
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- MetaLR 0.84
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available