R217G (p.Arg217Gly) variant of L1CAM (Neural cell adhesion molecule L1)
R217G (p.Arg217Gly) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of MASA syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
R217G (p.Arg217Gly) variant details
- p.Arg217Gly
- rs201204893
- ClinGen CA415135098
- ClinVar RCV001290966
- ExAC rs201204893
- Likely pathogenic
- MASA syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.38
- MetaLR 0.28
- MetaSVM -0.61
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (MASA syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)