N31S (p.Asn31Ser) variant of LAMC2 (Laminin subunit gamma-2)
N31S (p.Asn31Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- rs868277253
- ClinGen CA33955266
- ClinVar RCV003562029
- TOPMed rs868277253
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.29
- CADD 15.10
- PolyPhen-2 0.22
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available