C30F (p.Cys30Phe) variant of LAMC2 (Laminin subunit gamma-2)
C30F (p.Cys30Phe) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C30F (p.Cys30Phe) variant details
- p.Cys30Phe
- gnomAD 1-183207890-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available