V76M (p.Val76Met) variant of REN (Renin)
V76M (p.Val76Met) in REN (Renin) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- cosmic curated COSV65818
- ExAC rs777778258
- gnomAD rs777778258
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.81
- CADD 19.60
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available