L517R (p.Leu517Arg) variant of FOXP1 (Forkhead box protein P1)
L517R (p.Leu517Arg) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
L517R (p.Leu517Arg) variant details
- p.Leu517Arg
- rs1575757812
- ClinGen CA353491812
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10056
- Likely pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)