R24W (p.Arg24Trp) variant of LAMA2 (Laminin subunit alpha-2)
R24W (p.Arg24Trp) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs868408509
- cosmic curated COSV10973
- TOPMed rs868408509
- gnomAD rs868408509
- Uncertain significance
- Missense
- REVEL 0.12
- CADD 18.40
- PolyPhen-2 0.18
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)