Q107H (p.Gln107His) variant of LAMB3 (Laminin subunit beta-3)
Q107H (p.Gln107His) 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 0.62 / 1. The record also includes population frequency data and structural context.
Q107H (p.Gln107His) variant details
- p.Gln107His
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10062
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.73
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available