G67S (p.Gly67Ser) variant of MLC1 (Membrane protein MLC1)
G67S (p.Gly67Ser) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G67S (p.Gly67Ser) variant details
- p.Gly67Ser
- rs11554011
- gnomAD 2-210298528-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.65
- MetaSVM 0.47
- CADD 28.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available