V36I (p.Val36Ile) variant of L1CAM (Neural cell adhesion molecule L1)
V36I (p.Val36Ile) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- TOPMed rs2064783020
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.02
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available