P84Q (p.Pro84Gln) variant of ACVR1 (Activin receptor type-1)
P84Q (p.Pro84Gln) in ACVR1 (Activin receptor type-1) 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 0.66 / 1. The record also includes population frequency data and structural context.
P84Q (p.Pro84Gln) variant details
- p.Pro84Gln
- rs775537696
- ClinGen CA1919203
- ClinVar RCV003860033
- ExAC rs775537696
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.60
- CADD 22.80
- PolyPhen-2 0.25
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available