A9T (p.Ala9Thr) variant of JMJD4 (Q9H9V9)
A9T (p.Ala9Thr) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs748242267
- ClinGen CA1428165
- cosmic curated COSV59920
- ClinVar RCV004401266
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.05
- MetaSVM -1.09
- CADD 23.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available