P30S (p.Pro30Ser) variant of LAMA3 (Laminin subunit alpha-3)
P30S (p.Pro30Ser) 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.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD 18-23689771-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.02
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available