A18T (p.Ala18Thr) variant of LAMC2 (Laminin subunit gamma-2)
A18T (p.Ala18Thr) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- Ensembl rs1558075242
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.05
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available