P14L (p.Pro14Leu) variant of LAMA3 (Laminin subunit alpha-3)
P14L (p.Pro14Leu) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 18-23689724-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.01
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available