F324L (p.Phe324Leu) variant of SETD5 (Q9C0A6)
F324L (p.Phe324Leu) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
F324L (p.Phe324Leu) variant details
- p.Phe324Leu
- rs2041370929
- cosmic curated COSV10739
- ClinGen CA351689197
- ClinVar RCV004799535
- Likely pathogenic
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.48
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available