P103A (p.Pro103Ala) variant of LAMB3 (Laminin subunit beta-3)
P103A (p.Pro103Ala) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P103A (p.Pro103Ala) variant details
- p.Pro103Ala
- 1000Genomes rs200105150
- ExAC rs200105150
- TOPMed rs200105150
- gnomAD rs200105150
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.68
- SIFT 0.16
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available