V28L (p.Val28Leu) variant of SETD5 (Q9C0A6)
V28L (p.Val28Leu) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- TOPMed rs1575376679
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.58
- MetaLR 0.92
- MetaSVM 1.01
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available