R35K (p.Arg35Lys) variant of LAMC2 (Laminin subunit gamma-2)
R35K (p.Arg35Lys) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R35K (p.Arg35Lys) variant details
- p.Arg35Lys
- TOPMed rs947052612
- gnomAD rs947052612
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.06
- CADD 12.10
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available