P18Q (p.Pro18Gln) variant of LAMA3 (Laminin subunit alpha-3)
P18Q (p.Pro18Gln) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P18Q (p.Pro18Gln) variant details
- p.Pro18Gln
- 1000Genomes rs748928607
- ExAC rs748928607
- TOPMed rs748928607
- gnomAD rs748928607
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0953
- REVEL 0.04
- CADD 13.80
- PolyPhen-2 0.17
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available