P17T (p.Pro17Thr) variant of LAMC2 (Laminin subunit gamma-2)
P17T (p.Pro17Thr) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD 1-183186401-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.20
- CADD 21.50
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available