A49T (p.Ala49Thr) variant of ACVRL1 (Activin receptor type-1-like)
A49T (p.Ala49Thr) 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.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- ExAC rs267606633
- TOPMed rs267606633
- gnomAD rs267606633
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.35
- CADD 7.64
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Structural context available