P30P (p.Pro30Pro) variant of ACVRL1 (Activin receptor type-1-like)
P30P (p.Pro30Pro) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P30P (p.Pro30Pro) variant details
- p.Pro30Pro
- rs373401329
- gnomAD 12-51913127-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.75
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available