S48C (p.Ser48Cys) variant of MLC1 (Membrane protein MLC1)
S48C (p.Ser48Cys) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- gnomAD 2-210302505-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 28.00
- PolyPhen-2 0.76
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available