D22E (p.Asp22Glu) variant of ACVRL1 (Activin receptor type-1-like)
D22E (p.Asp22Glu) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- gnomAD 12-51913103-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.20
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available