P20R (p.Pro20Arg) variant of LAMA3 (Laminin subunit alpha-3)
P20R (p.Pro20Arg) 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.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- gnomAD 18-23689742-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0771
- REVEL 0.02
- CADD 3.80
- PolyPhen-2 0.00
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available