M21V (p.Met21Val) variant of ACVR1 (Activin receptor type-1)
M21V (p.Met21Val) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
M21V (p.Met21Val) variant details
- p.Met21Val
- TOPMed rs1170014341
- gnomAD rs1170014341
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.27
- CADD 7.16
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available