P39T (p.Pro39Thr) variant of ACVRL1 (Activin receptor type-1-like)
P39T (p.Pro39Thr) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- gnomAD rs1459735315
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.25
- CADD 9.52
- PolyPhen-2 0.02
- SIFT 0.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available