A26S (p.Ala26Ser) variant of JMJD4 (Q9H9V9)
A26S (p.Ala26Ser) 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 0.08 / 1. The record also includes population frequency data and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- rs781744631
- ClinGen CA1428141
- ClinVar RCV004223968
- ExAC rs781744631
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0773
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.00
- CADD 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available