L65I (p.Leu65Ile) variant of FOXP2 (Forkhead box protein P2)
L65I (p.Leu65Ile) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L65I (p.Leu65Ile) variant details
- p.Leu65Ile
- rs777042566
- NCI-TCGA Cosmic COSV6349
- cosmic curated COSV63494
- ExAC rs777042566
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- CADD 23.90
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available