K56T (p.Lys56Thr) variant of EDNRB (Endothelin receptor type B)
K56T (p.Lys56Thr) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
K56T (p.Lys56Thr) variant details
- p.Lys56Thr
- rs763764641
- ClinGen CA7012387
- ClinVar RCV003062604
- ExAC rs763764641
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.065
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available