D81E (p.Asp81Glu) variant of MLC1 (Membrane protein MLC1)
D81E (p.Asp81Glu) in MLC1 (Membrane protein MLC1) is a missense change. 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.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- rs143274393
- gnomAD 2-210298493-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.91
- MetaLR 0.38
- MetaSVM -0.61
- CADD 19.30
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available