K137R (p.Lys137Arg) variant of L1CAM (Neural cell adhesion molecule L1)
K137R (p.Lys137Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K137R (p.Lys137Arg) variant details
- p.Lys137Arg
- TOPMed rs2064766204
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.23
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.05
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available