P30L (p.Pro30Leu) variant of LAMA3 (Laminin subunit alpha-3)
P30L (p.Pro30Leu) 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.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD 18-23689772-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.02
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available