A193T (p.Ala193Thr) variant of ACE2 (Angiotensin-converting enzyme 2)
A193T (p.Ala193Thr) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A193T (p.Ala193Thr) variant details
- p.Ala193Thr
- cosmic curated COSV53027
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- CADD 19.40
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available