T47A (p.Thr47Ala) variant of LAMC2 (Laminin subunit gamma-2)
T47A (p.Thr47Ala) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- ExAC rs763022314
- gnomAD rs763022314
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.35
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available