I14F (p.Ile14Phe) variant of ACVR1 (Activin receptor type-1)
I14F (p.Ile14Phe) in ACVR1 (Activin receptor type-1) is a missense change. 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.
I14F (p.Ile14Phe) variant details
- p.Ile14Phe
- ExAC rs773936526
- gnomAD rs773936526
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.30
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.28
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available