P138L (p.Pro138Leu) variant of ACE2 (Angiotensin-converting enzyme 2)
P138L (p.Pro138Leu) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P138L (p.Pro138Leu) variant details
- p.Pro138Leu
- TOPMed rs1927830489
- gnomAD rs1927830489
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.19
- CADD 18.20
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available