R148C (p.Arg148Cys) variant of REN (Renin)
R148C (p.Arg148Cys) 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 0.41 / 1. The record also includes population frequency data and structural context.
R148C (p.Arg148Cys) variant details
- p.Arg148Cys
- rs191049685
- ClinGen CA1344937
- NCI-TCGA Cosmic COSV6581
- cosmic curated COSV65817
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.20
- MetaLR 0.17
- MetaSVM -0.84
- CADD 24.10
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00047)
- Structural context available