A34P (p.Ala34Pro) variant of LAMA3 (Laminin subunit alpha-3)
A34P (p.Ala34Pro) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- gnomAD 18-23689783-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0952
- REVEL 0.02
- CADD 15.40
- PolyPhen-2 0.75
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available