L17F (p.Leu17Phe) variant of EDNRB (Endothelin receptor type B)
L17F (p.Leu17Phe) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hirschsprung disease, susceptibility to, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- rs5346
- ClinGen CA7012405
- ClinVar RCV000221012
- ClinVar RCV000297140
- Conflicting interpretations
- not specified; Hirschsprung disease, susceptibility to, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hirschsprung disease, susceptibility to, 2; not p)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. (PMID 28236341)