S136P (p.Ser136Pro) variant of REN (Renin)
S136P (p.Ser136Pro) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S136P (p.Ser136Pro) variant details
- p.Ser136Pro
- rs762758270
- ClinGen CA1344944
- ClinVar RCV003851756
- ExAC rs762758270
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.31
- MetaLR 0.32
- MetaSVM -0.46
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available