G13V (p.Gly13Val) variant of LAMA3 (Laminin subunit alpha-3)
G13V (p.Gly13Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- TOPMed rs1157533708
- gnomAD rs1157533708
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0674
- REVEL 0.02
- CADD 9.81
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available