P25R (p.Pro25Arg) variant of MLC1 (Membrane protein MLC1)
P25R (p.Pro25Arg) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- rs886057625
- ClinGen CA10654200
- ClinVar RCV000666819
- Ensembl rs886057625
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.47
- MetaSVM -0.51
- PolyPhen-2 0.14
- SIFT 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)