I42V (p.Ile42Val) variant of REN (Renin)
I42V (p.Ile42Val) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1658258214
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -0.99
- CADD 9.99
- PolyPhen-2 0.07
- SIFT 0.53
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available