P42S (p.Pro42Ser) variant of L1CAM (Neural cell adhesion molecule L1)
P42S (p.Pro42Ser) in L1CAM (Neural cell adhesion molecule L1) 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 0.66 / 1. The record also includes structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs2064782707
- ClinGen CA415140435
- ClinVar RCV003482754
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 0.20
- MetaLR 0.90
- MetaSVM 0.91
- PolyPhen-2 0.90
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available