A116V (p.Ala116Val) variant of L1CAM (Neural cell adhesion molecule L1)
A116V (p.Ala116Val) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A116V (p.Ala116Val) variant details
- p.Ala116Val
- ExAC rs782704314
- TOPMed rs782704314
- gnomAD rs782704314
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.35
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available