Q16P (p.Gln16Pro) variant of EDN1 (Endothelin-1)
Q16P (p.Gln16Pro) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q16P (p.Gln16Pro) variant details
- p.Gln16Pro
- ExAC rs750687688
- gnomAD rs750687688
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.41
- MetaLR 0.43
- MetaSVM -0.30
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available