A36T (p.Ala36Thr) variant of ACE2 (Angiotensin-converting enzyme 2)
A36T (p.Ala36Thr) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- cosmic curated COSV10500
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.30
- CADD 20.20
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available