D36N (p.Asp36Asn) variant of MLC1 (Membrane protein MLC1)
D36N (p.Asp36Asn) 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 0.46 / 1. The record also includes population frequency data and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- rs748287655
- ClinGen CA10303679
- cosmic curated COSV61117
- ClinVar RCV002620921
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.80
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available