M34T (p.Met34Thr) variant of ACVR1 (Activin receptor type-1)
M34T (p.Met34Thr) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M34T (p.Met34Thr) variant details
- p.Met34Thr
- ExAC rs757848830
- TOPMed rs757848830
- gnomAD rs757848830
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.29
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available