T104M (p.Thr104Met) variant of ACVR1 (Activin receptor type-1)
T104M (p.Thr104Met) 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 0.75 / 1. The record also includes population frequency data and structural context.
T104M (p.Thr104Met) variant details
- p.Thr104Met
- rs758925804
- ClinGen CA1919192
- cosmic curated COSV10801
- ClinVar RCV002572390
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.74
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available