P18R (p.Pro18Arg) variant of LAMA3 (Laminin subunit alpha-3)
P18R (p.Pro18Arg) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- 1000Genomes rs748928607
- ExAC rs748928607
- TOPMed rs748928607
- gnomAD rs748928607
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0865
- REVEL 0.03
- CADD 13.80
- PolyPhen-2 0.12
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available