Q38E (p.Gln38Glu) variant of MLC1 (Membrane protein MLC1)
Q38E (p.Gln38Glu) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q38E (p.Gln38Glu) variant details
- p.Gln38Glu
- gnomAD 2-210302497-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available