Q109K (p.Gln109Lys) variant of REEP1 (Q9H902)
Q109K (p.Gln109Lys) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Q109K (p.Gln109Lys) variant details
- p.Gln109Lys
- ExAC rs758454701
- gnomAD rs758454701
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.79
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available