N29I (p.Asn29Ile) variant of ACVR1 (Activin receptor type-1)
N29I (p.Asn29Ile) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N29I (p.Asn29Ile) variant details
- p.Asn29Ile
- ExAC rs761642757
- gnomAD rs761642757
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.25
- CADD 8.20
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available