I38V (p.Ile38Val) variant of LAMC2 (Laminin subunit gamma-2)
I38V (p.Ile38Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- gnomAD rs1156326322
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.13
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available