P19S (p.Pro19Ser) variant of ACVR1 (Activin receptor type-1)
P19S (p.Pro19Ser) 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.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- rs1158969294
- ClinGen CA349194124
- ClinVar RCV002617499
- TOPMed rs1158969294
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.35
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.35
- 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