A21S (p.Ala21Ser) variant of LAMC2 (Laminin subunit gamma-2)
A21S (p.Ala21Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD 1-183186413-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.08
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available