S42R (p.Ser42Arg) variant of EDN1 (Endothelin-1)
S42R (p.Ser42Arg) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S42R (p.Ser42Arg) variant details
- p.Ser42Arg
- 1000Genomes rs576313237
- ExAC rs576313237
- gnomAD rs576313237
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.38
- MetaLR 0.26
- MetaSVM -0.74
- CADD 0.60
- PolyPhen-2 0.21
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available