S113T (p.Ser113Thr) variant of ACVR1 (Activin receptor type-1)
S113T (p.Ser113Thr) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S113T (p.Ser113Thr) variant details
- p.Ser113Thr
- TOPMed rs1303422236
- gnomAD rs1303422236
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.15
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available