A25T (p.Ala25Thr) variant of LAMB3 (Laminin subunit beta-3)
A25T (p.Ala25Thr) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- TOPMed rs1451743138
- gnomAD rs1451743138
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.17
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available