D2N (p.Asp2Asn) variant of EDN1 (Endothelin-1)
D2N (p.Asp2Asn) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- gnomAD 6-12290633-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.44
- MetaLR 0.48
- MetaSVM 0.05
- CADD 25.50
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available