Q20E (p.Gln20Glu) variant of ACVRL1 (Activin receptor type-1-like)
Q20E (p.Gln20Glu) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q20E (p.Gln20Glu) variant details
- p.Gln20Glu
- gnomAD 12-51912532-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.21
- CADD 6.38
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available