K175Q (p.Lys175Gln) variant of L1CAM (Neural cell adhesion molecule L1)
K175Q (p.Lys175Gln) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K175Q (p.Lys175Gln) variant details
- p.Lys175Gln
- gnomAD rs202164138
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.13
- CADD 19.40
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available