L15F (p.Leu15Phe) variant of LAMC2 (Laminin subunit gamma-2)
L15F (p.Leu15Phe) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- cosmic curated COSV51455
- ExAC rs762557088
- TOPMed rs762557088
- gnomAD rs762557088
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.12
- CADD 20.30
- PolyPhen-2 0.84
- SIFT 0.19
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available