H75Q (p.His75Gln) variant of LAMB3 (Laminin subunit beta-3)
H75Q (p.His75Gln) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H75Q (p.His75Gln) variant details
- p.His75Gln
- gnomAD rs1202622488
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.17
- CADD 22.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available