H40L (p.His40Leu) variant of ACVRL1 (Activin receptor type-1-like)
H40L (p.His40Leu) 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 and structural context.
H40L (p.His40Leu) variant details
- p.His40Leu
- gnomAD rs1248476778
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.27
- CADD 9.10
- PolyPhen-2 0.06
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available