M1R (p.Met1Arg) variant of CA2 (Carbonic anhydrase 2)
M1R (p.Met1Arg) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1811576779
- ClinGen CA371422905
- ClinVar RCV002274320
- Likely pathogenic
- Neurodevelopmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- MetaLR 0.18
- MetaSVM -0.74
- PolyPhen-2 0.60
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Neurodevelopmental delay)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available