P6R (p.Pro6Arg) variant of ACVRL1 (Activin receptor type-1-like)
P6R (p.Pro6Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- gnomAD rs1485762988
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.25
- CADD 8.72
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available