R101G (p.Arg101Gly) variant of ACVR1 (Activin receptor type-1)
R101G (p.Arg101Gly) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
R101G (p.Arg101Gly) variant details
- p.Arg101Gly
- ExAC rs780585007
- TOPMed rs780585007
- gnomAD rs780585007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available