L120I (p.Leu120Ile) variant of ACE2 (Angiotensin-converting enzyme 2)
L120I (p.Leu120Ile) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L120I (p.Leu120Ile) variant details
- p.Leu120Ile
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99383
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.07
- CADD 18.10
- PolyPhen-2 0.07
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available