P49S (p.Pro49Ser) variant of L1CAM (Neural cell adhesion molecule L1)
P49S (p.Pro49Ser) in L1CAM (Neural cell adhesion molecule L1) 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 0.34 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- rs1557093565
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- gnomAD rs1557093565
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.16
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available