F12V (p.Phe12Val) variant of LAMC2 (Laminin subunit gamma-2)
F12V (p.Phe12Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
F12V (p.Phe12Val) variant details
- p.Phe12Val
- gnomAD 1-183186386-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0789
- REVEL 0.04
- CADD 9.53
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available