L7Q (p.Leu7Gln) variant of EDNRB (Endothelin receptor type B)
L7Q (p.Leu7Gln) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- rs5345
- UniProt VAR 014675
- Ensembl rs5345
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.12
- Structural context available