R49Q (p.Arg49Gln) variant of REN (Renin)
R49Q (p.Arg49Gln) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- ExAC rs768773475
- TOPMed rs768773475
- gnomAD rs768773475
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.20
- PolyPhen-2 0.31
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available