R20G (p.Arg20Gly) variant of LAMC2 (Laminin subunit gamma-2)
R20G (p.Arg20Gly) in LAMC2 (Laminin subunit gamma-2) 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 0.14 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- 1000Genomes rs371296301
- ESP rs371296301
- ExAC rs371296301
- TOPMed rs371296301
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.07
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available