D61G (p.Asp61Gly) variant of ACVR1 (Activin receptor type-1)
D61G (p.Asp61Gly) 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 0.54 / 1. The record also includes population frequency data and structural context.
D61G (p.Asp61Gly) variant details
- p.Asp61Gly
- ExAC rs748590407
- gnomAD rs748590407
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.51
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available