L53S (p.Leu53Ser) variant of EDNRB (Endothelin receptor type B)
L53S (p.Leu53Ser) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L53S (p.Leu53Ser) variant details
- p.Leu53Ser
- ExAC rs766651046
- gnomAD rs766651046
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.75
- Population evidence available
- Structural context available