D2G (p.Asp2Gly) variant of JMJD4 (Q9H9V9)
D2G (p.Asp2Gly) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- gnomAD rs1399905802
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.11
- MetaSVM -0.96
- CADD 26.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available