M1R (p.Met1Arg) variant of ARID1A (O14497)
M1R (p.Met1Arg) in ARID1A (O14497) 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 0.31 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs2124739661
- ClinGen CA339264178
- ClinVar RCV002853169
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- MetaLR 0.03
- MetaSVM -1.18
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available