P30Q (p.Pro30Gln) variant of LAMA3 (Laminin subunit alpha-3)
P30Q (p.Pro30Gln) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P30Q (p.Pro30Gln) variant details
- p.Pro30Gln
- gnomAD 18-23689772-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.01
- CADD 12.00
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available