G125A (p.Gly125Ala) variant of LAMB3 (Laminin subunit beta-3)
G125A (p.Gly125Ala) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G125A (p.Gly125Ala) variant details
- p.Gly125Ala
- 1000Genomes rs574291969
- ExAC rs574291969
- TOPMed rs574291969
- gnomAD rs574291969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- CADD 15.30
- PolyPhen-2 0.08
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available