M11R (p.Met11Arg) variant of PRRT2 (Q7Z6L0)
M11R (p.Met11Arg) in PRRT2 (Q7Z6L0) 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 0.39 / 1. The record also includes structural context.
M11R (p.Met11Arg) variant details
- p.Met11Arg
- rs796052942
- ClinGen CA317046
- ClinVar RCV000188781
- TOPMed rs796052942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.45
- MetaLR 0.22
- MetaSVM -0.61
- PolyPhen-2 0.28
- SIFT 0.00
- EVE 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available