P19A (p.Pro19Ala) variant of ACVR1 (Activin receptor type-1)
P19A (p.Pro19Ala) 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 0.49 / 1. The record also includes population frequency data and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- TOPMed rs1158969294
- gnomAD rs1158969294
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.34
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available