V125A (p.Val125Ala) variant of REN (Renin)
V125A (p.Val125Ala) 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 0.21 / 1. The record also includes population frequency data and structural context.
V125A (p.Val125Ala) variant details
- p.Val125Ala
- gnomAD rs1440602112
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.06
- CADD 3.15
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available