G32S (p.Gly32Ser) variant of EDN1 (Endothelin-1)
G32S (p.Gly32Ser) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- ExAC rs749973432
- gnomAD rs749973432
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -1.02
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available