V2I (p.Val2Ile) variant of ACVR1 (Activin receptor type-1)
V2I (p.Val2Ile) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V2I (p.Val2Ile) variant details
- p.Val2Ile
- gnomAD rs1280889930
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.15
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available