S34C (p.Ser34Cys) variant of LAMC2 (Laminin subunit gamma-2)
S34C (p.Ser34Cys) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- gnomAD 1-183207902-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.52
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available