M21R (p.Met21Arg) variant of ACVR1 (Activin receptor type-1)
M21R (p.Met21Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M21R (p.Met21Arg) variant details
- p.Met21Arg
- TOPMed rs1687245345
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available