I12V (p.Ile12Val) variant of ACVR1 (Activin receptor type-1)
I12V (p.Ile12Val) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- rs759017686
- ClinGen CA1919259
- ClinVar RCV003880301
- ExAC rs759017686
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.18
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available