V9F (p.Val9Phe) variant of SETD5 (Q9C0A6)
V9F (p.Val9Phe) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.68 / 1. The record also includes population frequency data and structural context.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- rs2472288134
- ClinGen CA351679016
- ClinVar RCV002472195
- Uncertain significance
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.55
- MetaLR 0.88
- MetaSVM 0.90
- CADD 26.00
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available