L24P (p.Leu24Pro) variant of LAMA3 (Laminin subunit alpha-3)
L24P (p.Leu24Pro) 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.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- gnomAD 18-23689754-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.18
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available