S69Y (p.Ser69Tyr) variant of MLC1 (Membrane protein MLC1)
S69Y (p.Ser69Tyr) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S69Y (p.Ser69Tyr) variant details
- p.Ser69Tyr
- gnomAD 2-210298521-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.97
- MetaLR 0.30
- MetaSVM -0.71
- CADD 17.10
- Population evidence available
- Structural context available
- Literature evidence available