G39S (p.Gly39Ser) variant of ACVR1 (Activin receptor type-1)
G39S (p.Gly39Ser) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- rs983884500
- ClinGen CA59281066
- ClinVar RCV003429311
- TOPMed rs983884500
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.71
- CADD 22.40
- PolyPhen-2 0.14
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available