K38I (p.Lys38Ile) variant of EDN1 (Endothelin-1)
K38I (p.Lys38Ile) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K38I (p.Lys38Ile) variant details
- p.Lys38Ile
- gnomAD 6-12292389-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.35
- CADD 7.02
- PolyPhen-2 0.08
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available