G2V (p.Gly2Val) variant of ACE (Angiotensin-converting enzyme)
G2V (p.Gly2Val) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Renal tubular dysgenesis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- rs558593002
- ClinGen CA8698931
- ClinVar RCV000292727
- ClinVar RCV000911210
- Benign
- Renal tubular dysgenesis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.04
- MetaSVM -1.11
- CADD 22.60
- ClinVar: Benign (Renal tubular dysgenesis; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available