V18M (p.Val18Met) variant of ACVRL1 (Activin receptor type-1-like)
V18M (p.Val18Met) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V18M (p.Val18Met) variant details
- p.Val18Met
- cosmic curated COSV66361
- ExAC rs762998725
- gnomAD rs762998725
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.31
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available