M34K (p.Met34Lys) variant of ACVR1 (Activin receptor type-1)
M34K (p.Met34Lys) 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.
M34K (p.Met34Lys) variant details
- p.Met34Lys
- ExAC rs757848830
- TOPMed rs757848830
- gnomAD rs757848830
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.30
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available