S107L (p.Ser107Leu) variant of REN (Renin)
S107L (p.Ser107Leu) 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 0.80 / 1. The record also includes population frequency data and structural context.
S107L (p.Ser107Leu) variant details
- p.Ser107Leu
- rs1409715151
- ClinGen CA344341280
- NCI-TCGA Cosmic COSV6581
- cosmic curated COSV65817
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.90
- MetaLR 0.77
- MetaSVM 0.82
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available