S48F (p.Ser48Phe) variant of MLC1 (Membrane protein MLC1)
S48F (p.Ser48Phe) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- rs1310206920
- gnomAD 2-210302505-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 25.40
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available