R10L (p.Arg10Leu) variant of LAMA3 (Laminin subunit alpha-3)
R10L (p.Arg10Leu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 18-23689712-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.07
- CADD 16.20
- PolyPhen-2 0.11
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available