H47N (p.His47Asn) variant of ACVR1 (Activin receptor type-1)
H47N (p.His47Asn) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H47N (p.His47Asn) variant details
- p.His47Asn
- TOPMed rs889434177
- gnomAD rs889434177
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.35
- CADD 22.40
- PolyPhen-2 0.21
- SIFT 0.30
- EBI: Variant of uncertain significance (in dbSNP:rs34056189)
- UniProt: Uncertain significance (in dbSNP:rs34056189)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available