A34V (p.Ala34Val) variant of LAMA3 (Laminin subunit alpha-3)
A34V (p.Ala34Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 18-23689784-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.01
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available