V80I (p.Val80Ile) variant of EDN1 (Endothelin-1)
V80I (p.Val80Ile) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V80I (p.Val80Ile) variant details
- p.Val80Ile
- rs147381256
- ClinGen CA3638676
- ClinVar RCV000935196
- 1000Genomes rs147381256
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -0.94
- CADD 6.91
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available