C32S (p.Cys32Ser) variant of LAMA3 (Laminin subunit alpha-3)
C32S (p.Cys32Ser) in LAMA3 (Laminin subunit alpha-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C32S (p.Cys32Ser) variant details
- p.Cys32Ser
- gnomAD 18-23689777-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 17.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available