R7K (p.Arg7Lys) variant of ACVRL1 (Activin receptor type-1-like)
R7K (p.Arg7Lys) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- gnomAD rs1940712916
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.14
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available