R7G (p.Arg7Gly) variant of ACVRL1 (Activin receptor type-1-like)
R7G (p.Arg7Gly) in ACVRL1 (Activin receptor type-1-like) 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.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.20
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available