A36D (p.Ala36Asp) variant of LAMA3 (Laminin subunit alpha-3)
A36D (p.Ala36Asp) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- gnomAD 18-23689790-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available