A13V (p.Ala13Val) variant of ACE2 (Angiotensin-converting enzyme 2)
A13V (p.Ala13Val) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- cosmic curated COSV10804
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.19
- CADD 23.00
- PolyPhen-2 0.58
- SIFT 0.12
- Population evidence available
- Structural context available