R24S (p.Arg24Ser) variant of LAMC2 (Laminin subunit gamma-2)
R24S (p.Arg24Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- gnomAD 1-183186424-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available