L14P (p.Leu14Pro) variant of LAMC2 (Laminin subunit gamma-2)
L14P (p.Leu14Pro) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 1-183186393-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.21
- CADD 23.40
- PolyPhen-2 0.88
- SIFT 0.23
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available