C32Y (p.Cys32Tyr) variant of LAMA3 (Laminin subunit alpha-3)
C32Y (p.Cys32Tyr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
C32Y (p.Cys32Tyr) variant details
- p.Cys32Tyr
- gnomAD 18-23689778-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0598
- REVEL 0.03
- CADD 2.18
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available