I38N (p.Ile38Asn) variant of LAMC2 (Laminin subunit gamma-2)
I38N (p.Ile38Asn) in LAMC2 (Laminin subunit gamma-2) 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, published literature, and structural context.
I38N (p.Ile38Asn) variant details
- p.Ile38Asn
- gnomAD 1-183207914-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.12
- CADD 19.60
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available