M53V (p.Met53Val) variant of REN (Renin)
M53V (p.Met53Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
M53V (p.Met53Val) variant details
- p.Met53Val
- rs2527493841
- ClinGen CA344341946
- ClinVar RCV002730524
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.00
- CADD 7.67
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available