P162L (p.Pro162Leu) variant of L1CAM (Neural cell adhesion molecule L1)
P162L (p.Pro162Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P162L (p.Pro162Leu) variant details
- p.Pro162Leu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- TOPMed rs2064765578
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.06
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available