P30A (p.Pro30Ala) variant of LAMA3 (Laminin subunit alpha-3)
P30A (p.Pro30Ala) 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.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- gnomAD 18-23689771-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.02
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available