L62S (p.Leu62Ser) variant of MLC1 (Membrane protein MLC1)
L62S (p.Leu62Ser) in MLC1 (Membrane protein MLC1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L62S (p.Leu62Ser) variant details
- p.Leu62Ser
- gnomAD 2-210298546-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 26.50
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available