L165S (p.Leu165Ser) variant of FGFR1 (P11362)
L165S (p.Leu165Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hartsfield-Bixler-Demyer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
L165S (p.Leu165Ser) variant details
- p.Leu165Ser
- rs397515481
- ClinGen CA280342
- ClinVar RCV000056314
- UniProt VAR 070851
- Pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.54
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.41
- ClinVar: Pathogenic (Hartsfield-Bixler-Demyer syndrome)
- EBI: Pathogenic (in HRTFDS)
- UniProt: Pathogenic (in HRTFDS)
- Structural context available
- Cited in: Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. (PMID 19504604)
- Cited in: FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. (PMID 23812909)