A123T (p.Ala123Thr) variant of REN (Renin)
A123T (p.Ala123Thr) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A123T (p.Ala123Thr) variant details
- p.Ala123Thr
- gnomAD rs1186374117
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.39
- MetaLR 0.24
- MetaSVM -0.60
- CADD 26.60
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available