Q109R (p.Gln109Arg) variant of REEP1 (Q9H902)
Q109R (p.Gln109Arg) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q109R (p.Gln109Arg) variant details
- p.Gln109Arg
- rs151242809
- gnomAD 2-86232626-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 19.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available