A34E (p.Ala34Glu) variant of LAMA3 (Laminin subunit alpha-3)
A34E (p.Ala34Glu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- gnomAD 18-23689784-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.07
- CADD 13.20
- PolyPhen-2 0.70
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available