V216G (p.Val216Gly) variant of ACVRL1 (Activin receptor type-1-like)
V216G (p.Val216Gly) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
V216G (p.Val216Gly) variant details
- p.Val216Gly
- rs1592223392
- ClinGen CA384899992
- ClinVar RCV001003752
- Ensembl rs1592223392
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available