I59V (p.Ile59Val) variant of ACVR1 (Activin receptor type-1)
I59V (p.Ile59Val) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I59V (p.Ile59Val) variant details
- p.Ile59Val
- gnomAD rs1296302175
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.23
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available