P20L (p.Pro20Leu) variant of LAMA3 (Laminin subunit alpha-3)
P20L (p.Pro20Leu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD 18-23689742-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0826
- REVEL 0.02
- CADD 4.50
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available