N34K (p.Asn34Lys) variant of EDN1 (Endothelin-1)
N34K (p.Asn34Lys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- gnomAD rs1263267835
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -0.92
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available