T22A (p.Thr22Ala) variant of LAMC2 (Laminin subunit gamma-2)
T22A (p.Thr22Ala) 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 and structural context.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- TOPMed rs1484118529
- gnomAD rs1484118529
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available