A3T (p.Ala3Thr) variant of LAMC2 (Laminin subunit gamma-2)
A3T (p.Ala3Thr) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 1-183186359-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.33
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available