Y67H (p.Tyr67His) variant of BMPR2 (Q13873)
Y67H (p.Tyr67His) in BMPR2 (Q13873) 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 0.89 / 1. The record also includes structural context.
Y67H (p.Tyr67His) variant details
- p.Tyr67His
- rs1559046623
- ClinGen CA350399381
- cosmic curated COSV65812
- ClinVar RCV000755850
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in PPH1)
- UniProt: Uncertain significance (in PPH1)
- Structural context available