P138A (p.Pro138Ala) variant of ACE2 (Angiotensin-converting enzyme 2)
P138A (p.Pro138Ala) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P138A (p.Pro138Ala) variant details
- p.Pro138Ala
- ExAC rs766124365
- gnomAD rs766124365
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.08
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available