R43Q (p.Arg43Gln) variant of L1CAM (Neural cell adhesion molecule L1)
R43Q (p.Arg43Gln) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- cosmic curated COSV10064
- ExAC rs782819951
- gnomAD rs782819951
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.10
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available