A21V (p.Ala21Val) variant of LAMC2 (Laminin subunit gamma-2)
A21V (p.Ala21Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD 1-183186414-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.17
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available