P87L (p.Pro87Leu) variant of ACVR1 (Activin receptor type-1)
P87L (p.Pro87Leu) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- TOPMed rs1036913529
- gnomAD rs1036913529
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.37
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available