A2P (p.Ala2Pro) variant of LAMA3 (Laminin subunit alpha-3)
A2P (p.Ala2Pro) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 18-23689687-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.08
- CADD 24.20
- PolyPhen-2 0.57
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available