S13L (p.Ser13Leu) variant of LAMC2 (Laminin subunit gamma-2)
S13L (p.Ser13Leu) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S13L (p.Ser13Leu) variant details
- p.Ser13Leu
- rs773517261
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99917
- ExAC rs773517261
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.06
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.59
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available