D201N (p.Asp201Asn) variant of ACE2 (Angiotensin-converting enzyme 2)
D201N (p.Asp201Asn) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D201N (p.Asp201Asn) variant details
- p.Asp201Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available