M34R (p.Met34Arg) variant of ACVR1 (Activin receptor type-1)
M34R (p.Met34Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M34R (p.Met34Arg) variant details
- p.Met34Arg
- ExAC rs757848830
- TOPMed rs757848830
- gnomAD rs757848830
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available