D131Y (p.Asp131Tyr) variant of REN (Renin)
D131Y (p.Asp131Tyr) in REN (Renin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D131Y (p.Asp131Tyr) variant details
- p.Asp131Tyr
- TOPMed rs1422936644
- gnomAD rs1422936644
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.35
- MetaLR 0.26
- MetaSVM -0.46
- CADD 23.30
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available