H47D (p.His47Asp) variant of ACVR1 (Activin receptor type-1)
H47D (p.His47Asp) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H47D (p.His47Asp) variant details
- p.His47Asp
- rs889434177
- ClinGen CA349193921
- ClinVar RCV003878168
- TOPMed rs889434177
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.45
- CADD 22.80
- PolyPhen-2 0.27
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs34056189)
- UniProt: Uncertain significance (in dbSNP:rs34056189)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available