T52S (p.Thr52Ser) variant of ACE2 (Angiotensin-converting enzyme 2)
T52S (p.Thr52Ser) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T52S (p.Thr52Ser) variant details
- p.Thr52Ser
- rs2519715048
- ClinGen CA412310224
- ClinVar RCV004152024
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.19
- CADD 23.30
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available