P6P (p.Pro6Pro) variant of ACVRL1 (Activin receptor type-1-like)
P6P (p.Pro6Pro) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P6P (p.Pro6Pro) variant details
- p.Pro6Pro
- rs778246850
- gnomAD 12-51912492-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 4.73
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available