D61N (p.Asp61Asn) variant of ACVR1 (Activin receptor type-1)
D61N (p.Asp61Asn) 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 0.50 / 1. The record also includes population frequency data and structural context.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- rs772534199
- ClinGen CA59281061
- ClinVar RCV001887657
- TOPMed rs772534199
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available