L9M (p.Leu9Met) variant of REEP1 (Q9H902)
L9M (p.Leu9Met) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- TOPMed rs1681105721
- gnomAD rs1681105721
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 21.10
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available