I127V (p.Ile127Val) variant of ACVR1 (Activin receptor type-1)
I127V (p.Ile127Val) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- TOPMed rs1277715491
- gnomAD rs1277715491
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available