L28R (p.Leu28Arg) variant of EDN1 (Endothelin-1)
L28R (p.Leu28Arg) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L28R (p.Leu28Arg) variant details
- p.Leu28Arg
- gnomAD 6-12292359-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.46
- MetaLR 0.64
- MetaSVM 0.19
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available