M13R (p.Met13Arg) variant of ACVR1 (Activin receptor type-1)
M13R (p.Met13Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M13R (p.Met13Arg) variant details
- p.Met13Arg
- gnomAD rs1315007491
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available