K123R (p.Lys123Arg) variant of REEP1 (Q9H902)
K123R (p.Lys123Arg) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K123R (p.Lys123Arg) variant details
- p.Lys123Arg
- Ensembl rs1574035745
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 5.75
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available