P41H (p.Pro41His) variant of EDN1 (Endothelin-1)
P41H (p.Pro41His) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P41H (p.Pro41His) variant details
- p.Pro41His
- gnomAD rs1299418415
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.40
- MetaLR 0.71
- MetaSVM 0.48
- CADD 22.90
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available