A19V (p.Ala19Val) variant of LAMC2 (Laminin subunit gamma-2)
A19V (p.Ala19Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 1-183186408-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- CADD 15.30
- PolyPhen-2 0.05
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available