M79I (p.Met79Ile) variant of ACVR1 (Activin receptor type-1)
M79I (p.Met79Ile) 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 0.63 / 1. The record also includes population frequency data and structural context.
M79I (p.Met79Ile) variant details
- p.Met79Ile
- rs1403278698
- TOPMed rs1403278698
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.55
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available