R25W (p.Arg25Trp) variant of LAMC2 (Laminin subunit gamma-2)
R25W (p.Arg25Trp) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- gnomAD 1-183186425-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.16
- CADD 24.10
- PolyPhen-2 0.22
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available