S20G (p.Ser20Gly) variant of ACVR1 (Activin receptor type-1)
S20G (p.Ser20Gly) 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 0.36 / 1. The record also includes population frequency data and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55116
- Ensembl rs1687245837
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.20
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available