A129T (p.Ala129Thr) variant of LAMB3 (Laminin subunit beta-3)
A129T (p.Ala129Thr) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- rs1031008727
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10062
- gnomAD rs1031008727
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.65
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available