V27V (p.Val27Val) variant of LAMC2 (Laminin subunit gamma-2)
V27V (p.Val27Val) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V27V (p.Val27Val) variant details
- p.Val27Val
- gnomAD 1-183207882-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 0.36
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available