Y82H (p.Tyr82His) variant of MLC1 (Membrane protein MLC1)
Y82H (p.Tyr82His) 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.
Y82H (p.Tyr82His) variant details
- p.Tyr82His
- rs1690138016
- gnomAD 2-210294338-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.95
- MetaLR 0.71
- MetaSVM 0.68
- CADD 26.90
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available
- Literature evidence available