Q118H (p.Gln118His) variant of ACVR1 (Activin receptor type-1)
Q118H (p.Gln118His) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q118H (p.Gln118His) variant details
- p.Gln118His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.22
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available